Muscular dystrophy is generally the term that is used to describe several different inherited conditions characterized by the gradual deterioration of skeletal muscles. It occurs at an incidence of about 1 in 5,000 people and can occur at any age but is more frequently diagnosed in childhood. Muscular dystrophy is the result of genetic defects that alter those genes that are involved in the formation of muscle fibers and their functioning, which results in the gradual atrophy of different muscles.
Muscular dystrophy can be described as a group of hereditary diseases that involves progressive and comprehensive muscle disease whereby the muscles’ cell plasma membrane has a deficiency of glycoproteins. This noncommunicable disease comes in different forms but all these styles differ in terms of the mode of inheritance, the time of onset, and the rate of muscle deterioration. Muscular dystrophy comes in different forms and is genetically caused because of different genetic mutations. The muscular dystrophy impacts the skeletal muscles and the cardiac muscles.
Epidemiology
Muscular dystrophy (MD) can be brought in different forms and the occurrence rate of each form of the disease may differ. Of all subtypes of MD, Duchenne MD is the most common, manifested in those with sex-linked inheritance, with the occurrence of 1 in 3500 live male births. In about one-third of these cases, the mutations are new and appeared for the first time in the affected individual. Becker MD is the second most frequent type, with an incidence of 1 in 30,000 live male births. Other forms of MD are rare; for example, limb-girdle dystrophy occurs in the frequency of 1. 3% of MD cases.
The rate of occurrence of most of the muscular dystrophies is almost equal to that of the USA, with only a few exceptions all over the world. For instance, oculopharyngeal muscular dystrophy is more common to French Canadians than to other population groups.
Anatomy
Pathophysiology
Duchenne muscular dystrophy (DMD) is a rapidly progressive degenerative disease that affects muscles, particularly the skeletal ones. The lack of dystrophin protein weakens the muscle fibre membrane and causes an influx of calcium ions into the fibre resulting in muscle fibre breakdown, inflammation and fibrosis. It manifests in the form of muscle weakness, reduced muscle mass, and rigidity of the lower limbs, pelvic girdle, and shoulder. Abnormal dystrophin affects the integrity of the muscle cell membrane, leading to muscle injury and increased blood levels of creatine kinase. The dystrophin-glycoprotein complex plays a critical role in the structural integrity of the sarcolemma. Consequently, deficiency in the DMD gene produces dystrophin, resulting in muscle atrophy and skeleton deformities, immobility, and fibrosis of cardiac and gastrointestinal muscles, which may affect brain structural formation.
Etiology
Depending on the genetic basis, it is subdivided into sex-linked, autosomal recessive, and autosomal dominant MDs all of which have distinct clinical and pathological features. Other types of heritable MDs are Duchenne, Becker, Emery-Dreifuss, Facioscapulohumeral, Distal, Ocular, Oculopharyngeal and Limb-girdle MDs. Skeletal, smooth and cardiac muscles and the brain contain dystrophin and its gene and since it is a large gene, it is often mutated and therefore can create a situation where muscles possess unstable dystrophin. Emery Dreifuss is a X-linked recessive trait; it involves X chromosome at q28 locus. Considering autosomal recessive MDs, they are located at the chromosome 13q12 in limb-girdle MD. ADMDs sit on the 4q35 marker and 2q12-14 markers in Facioscapulohumeral and Distal MD respectively
Genetics
Prognostic Factors
However, currently there is no cure for muscular dystrophy (MD) even with all the latest developments in gene therapy and molecular biology. Many patients require extensive support for proper care and management; however, the life expectancy remains low because most patients die of cardiopulmonary failure before 30 years of age.
Clinical History
Age Group
Childhood: Duchenne Muscular Dystrophy (DMD) and began in early childhood while Becker Muscular Dystrophy (BMD) has been known to start in childhood.
Adolescence to Early Adulthood: These two are the FSHD and the EDMD and they are commonly diagnosed at a young age, specifically during the teenage years.
Adulthood: Autosomal Recessive: Limb-Girdle Muscular Dystrophy (LGMD) and Myotonic Dystrophy
Physical Examination
Gower’s Sign: Assessing the patient’s capacity to get up from a chair or bed. Gower’s sign is a normal test wherein if the patient can use his/her hands to ‘walk’ up their legs as shown below it points towards proximal muscle weakness.
Range of Motion (ROM): Looking for the degree of the active joint contractures especially in the ankles and the elbow.
Facial Muscles: For facial weakness, possible observations may include inability to shut the eyes closely, to smile or puffy cheeks.
Age group
Associated comorbidity
Cardiopulmonary Complications
Skeletal Deformities
Cognitive Impairments
Endocrine Issues
Eye and Hearing Problems
Associated activity
Acuity of presentation
Duchenne Muscular Dystrophy (DMD)
The onset is in early childhood is preferred and is often observed between the ages of 2 and 5.
Symptoms: Problems with gross motor development: later than expected, falls often, has difficulty with running and jumping, presents with Gower’s sign.
Becker Muscular Dystrophy (BMD)
The onset is in late childhood up to early adulthood.
Symptoms: It is also like DMD but less severe and with slower disease progression.
Facioscapulohumeral Muscular Dystrophy (FSHD):
The onset is from Adolescence to early adulthood.
Symptoms: Numbness; poor tone of the face, shoulder and upper arm muscles; inability to hold/draw arms up and scapular winging.
Limb-Girdle Muscular Dystrophy (LGMD)
The onset is for Late adolescence to adulthood.
Symptoms: Muscle weakness in the hip, and shoulder regions.
Corticosteroids: Prednisone and deflazacort are oral corticosteroids which can be helpful to support slowing the rate of muscle deterioration together with increasing strength which can help in the case of Duchenne muscular dystrophy (DMD).
Disease-modifying Therapies: Other targeted therapies for example exon-skipping agents (eteplirsen) are still experimental and target genetic mutation.
Supportive Medications: Treatment of the associated complications, such as inflammation, pain, heart issues, or breathing difficulties.
Physical Therapy and Rehabilitation
Exercise Programs: Specific activities which will form part of the individualized programs will include; Muscle strength and flexibility and joint flexibility. These may include stretching exercises, resistance training exercises, and Aerobic exercises.
Assistive Devices: On the basis of the type of paralysis, the other measures include, use of orthotics or braces, use of wheel chairs so as to enable movement while avoiding complications such as contractures among others.
Surgical Interventions
Orthopedic Surgery: Arthroplasties or reconstructive operations for the joint or to adjust the joint that is stiff or deformed or they may perform a laminectomy for spinal curvature that is called scoliosis.
Tendon Release: Cutting shortening of tendons and increasing flexibility is a surgical process that is considered to be done.
Respiratory Care
Non-invasive Ventilation: Oxygen supplement with the help of CPAP or BiPAP to assist in breathing and treat respiratory muscles’ weakness.
Cough Assist Devices: The following are the steps through which the patient can attempt to soften the phlegm and minimize the probability of contracting chest infection.
Nutritional Support: Treating malnutrition and using techniques of feeding the patient with a possibility of a gastrostomy if the patient has swallowing disorders.
Physical Therapy: Flexible, and customized for each patient, with emphasis on the ability to retain muscle mass, flexibility, and power. Moderate exercises, including swimming and cycling for example should be encouraged. Simple movements to avoid contractures and increase joint mobility and flexibility. Braces and utilization of orthotic devices to enhance the strength of muscles that have been weakened as a result of the injury.
Occupational Therapy: Suggested lists for mobility aids to aid independence and prevent falls (wheelchairs, walkers, etc.)
Respiratory Care: Aerobic exercises that train lungs for better respiration, exercises that improve strength of the muscles around the lungs. Application of other equipment for example BiPAP (Bilevel Positive Airway Pressure) to patients with the respiratory muscle challenge. To promote lung clearance for people with respiratory problems and reduce the risk of developing an infection.
Nutritional Support: It needs to be noted that planning for proper nutrition is important to remain as lean and muscular as possible. Protein diets can be prescribed to enhance muscle formation and repair, mainly for athletes or individuals who engage in strenuous activities.
Psychosocial Support: Offering compassionate care and the appropriate intervention to patients and caregivers.
Role of Corticosteroids
Prednisone: It is useful in DMD management at doses between 0. 75 mg/kg/day to 1. 5 mg/kg/day. This is believed to have therapeutic effect through suppression of cytotoxic T-cell activity in necrotic muscle tissue. However, the efficacy of such treatments may only be short-term and possible complications include effects like excessive weight gain, osteoporosis, muscle disease and stunted growth.
Deflazacort: It is a new generation corticosteroid from the prednisolone family and is a new therapeutic possibility for DMD. The recommended dosage confirmed by the FDA is 0. 9 mg/kg/day. It has shown efficacy for conditions like those that prednisone gives.
Role of Dissociative Steroids
Vamorolone: It belongs to the group of steroidal anti-inflammatory preparations and is like traditional glucocorticoids in efficacy but has several differences, namely, it does not contain an 11-beta hydroxy-carbonyl group. This variation changes the way it binds to the glucocorticoid receptor, which changes its shape and functionality. It is used in the management of Duchenne muscular dystrophy which is a genetic disorder affecting boys in the age group of 2 years and above.
Role of Morpholino Antisense Oligomers, Neurology
Eteplirsen: It is considered the first compound of the phosphorodiamidate morpholino oligomers (PMOs) class. It is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients with a genetic test confirming a mutation that will be responded to exon 51 skipping. It is a weekly administered intravenous solution.
Golodirsen: It is the second PMO approved for the treatment of Duchenne muscular dystrophy in patients with confirmed mutation in the dystrophin gene that enables the exon-53 skipping.
Viltolarsen: Specifically, it is an antisense oligonucleotide from the PMO class of drugs and is currently in Phase 2 of development. It localises to exon 53 of dystrophin pre-mRNA and causes its specific recognition and removal from the mRNA. It is approved for the treatment of Duchenne muscular dystrophy in patients having a mutation that would be suitable for exon 53 skipping.
Casimersen: It is PMO class antisense oligonucleotide targets exon 45 of dystrophin pre-mRNA to gain access to exon 45. This binding results in the removal of 45 exon during the processing of mRNA. Casimersen is an oligonucleotide therapeutic with the ultimate purpose of treating DMD and is approved to be used in patients who have a confirmed mutation that is likely to respond to a phenomenal exon 45 skipping.
Role of Neurologics, HDAC Inhibitors
Givinostat: It belongs to the sphere of pharmacotherapy for treating Duchenne muscular dystrophy in patients aged from six years with no regard to the kind of the disease’s genetic variant.
Role of Gene Therapies, Neurologics
DelandistrogeneMoxeparvovec: It is a one-time gene therapy specifically for Duchenne muscular dystrophy in ambulant pediatric patients aged between 4 to 5 years with the confirmed mutation in the DMD gene.
Orthopedic Surgery: Some patients may undergo surgeries to correct joint abnormalities, spinal curvature, or contracture that characterizes muscular dystrophy disorder. For instance, spinal surgery involving fusion may be required in cases of scoliosis.
Tendon Release: In cases where tendons get tightened due to muscle weakness and contractures surgeries may be carried out to release or lengthen tendons.
Assistive Devices:
Bracing and Orthotics: Splinters or individual orthopedic appliances can also facilitate movement, assist in strengthening of slacking muscles and prevent the formation of contractures.
Powerchairs and Mobility Aids: If a person has severe mobility limitations, but wants to mobilise independently, then wheelchairs or power mobility aids are helpful.
Physical Therapy and Rehabilitation:
Stretching and Strengthening Exercises: Indeed, although exercises would not restore the lost muscles due to MD, they would assist in reducing stiffness and increasing strength and such movements if they can do.
Aquatic Therapy: Applying water exercises can lower effects on joints and improve the environment for people with joint pain to support Workout.
use-of-phases-in-managing-muscular-dystrophy
Managing muscular dystrophy involves a phased approach:
Early Phase: This has components of evaluation, maintaining a stable status, and actively managing side-effects using such approaches as exercises, teaching, and aids on mobility.
Intermediate Phase: Included with adapting the care needed because of progressive disability or the development of other issues as therapy, potential surgeries, or breathing aid.
Advanced Phase: Advanced respiratory support care, including symptom management and other aspects of palliative care to achieve the best quality of life and advance care planning.
Muscular dystrophy is generally the term that is used to describe several different inherited conditions characterized by the gradual deterioration of skeletal muscles. It occurs at an incidence of about 1 in 5,000 people and can occur at any age but is more frequently diagnosed in childhood. Muscular dystrophy is the result of genetic defects that alter those genes that are involved in the formation of muscle fibers and their functioning, which results in the gradual atrophy of different muscles.
Muscular dystrophy can be described as a group of hereditary diseases that involves progressive and comprehensive muscle disease whereby the muscles’ cell plasma membrane has a deficiency of glycoproteins. This noncommunicable disease comes in different forms but all these styles differ in terms of the mode of inheritance, the time of onset, and the rate of muscle deterioration. Muscular dystrophy comes in different forms and is genetically caused because of different genetic mutations. The muscular dystrophy impacts the skeletal muscles and the cardiac muscles.
Muscular dystrophy (MD) can be brought in different forms and the occurrence rate of each form of the disease may differ. Of all subtypes of MD, Duchenne MD is the most common, manifested in those with sex-linked inheritance, with the occurrence of 1 in 3500 live male births. In about one-third of these cases, the mutations are new and appeared for the first time in the affected individual. Becker MD is the second most frequent type, with an incidence of 1 in 30,000 live male births. Other forms of MD are rare; for example, limb-girdle dystrophy occurs in the frequency of 1. 3% of MD cases.
The rate of occurrence of most of the muscular dystrophies is almost equal to that of the USA, with only a few exceptions all over the world. For instance, oculopharyngeal muscular dystrophy is more common to French Canadians than to other population groups.
Duchenne muscular dystrophy (DMD) is a rapidly progressive degenerative disease that affects muscles, particularly the skeletal ones. The lack of dystrophin protein weakens the muscle fibre membrane and causes an influx of calcium ions into the fibre resulting in muscle fibre breakdown, inflammation and fibrosis. It manifests in the form of muscle weakness, reduced muscle mass, and rigidity of the lower limbs, pelvic girdle, and shoulder. Abnormal dystrophin affects the integrity of the muscle cell membrane, leading to muscle injury and increased blood levels of creatine kinase. The dystrophin-glycoprotein complex plays a critical role in the structural integrity of the sarcolemma. Consequently, deficiency in the DMD gene produces dystrophin, resulting in muscle atrophy and skeleton deformities, immobility, and fibrosis of cardiac and gastrointestinal muscles, which may affect brain structural formation.
Depending on the genetic basis, it is subdivided into sex-linked, autosomal recessive, and autosomal dominant MDs all of which have distinct clinical and pathological features. Other types of heritable MDs are Duchenne, Becker, Emery-Dreifuss, Facioscapulohumeral, Distal, Ocular, Oculopharyngeal and Limb-girdle MDs. Skeletal, smooth and cardiac muscles and the brain contain dystrophin and its gene and since it is a large gene, it is often mutated and therefore can create a situation where muscles possess unstable dystrophin. Emery Dreifuss is a X-linked recessive trait; it involves X chromosome at q28 locus. Considering autosomal recessive MDs, they are located at the chromosome 13q12 in limb-girdle MD. ADMDs sit on the 4q35 marker and 2q12-14 markers in Facioscapulohumeral and Distal MD respectively
However, currently there is no cure for muscular dystrophy (MD) even with all the latest developments in gene therapy and molecular biology. Many patients require extensive support for proper care and management; however, the life expectancy remains low because most patients die of cardiopulmonary failure before 30 years of age.
Age Group
Childhood: Duchenne Muscular Dystrophy (DMD) and began in early childhood while Becker Muscular Dystrophy (BMD) has been known to start in childhood.
Adolescence to Early Adulthood: These two are the FSHD and the EDMD and they are commonly diagnosed at a young age, specifically during the teenage years.
Adulthood: Autosomal Recessive: Limb-Girdle Muscular Dystrophy (LGMD) and Myotonic Dystrophy
Gower’s Sign: Assessing the patient’s capacity to get up from a chair or bed. Gower’s sign is a normal test wherein if the patient can use his/her hands to ‘walk’ up their legs as shown below it points towards proximal muscle weakness.
Range of Motion (ROM): Looking for the degree of the active joint contractures especially in the ankles and the elbow.
Facial Muscles: For facial weakness, possible observations may include inability to shut the eyes closely, to smile or puffy cheeks.
Cardiopulmonary Complications
Skeletal Deformities
Cognitive Impairments
Endocrine Issues
Eye and Hearing Problems
Duchenne Muscular Dystrophy (DMD)
The onset is in early childhood is preferred and is often observed between the ages of 2 and 5.
Symptoms: Problems with gross motor development: later than expected, falls often, has difficulty with running and jumping, presents with Gower’s sign.
Becker Muscular Dystrophy (BMD)
The onset is in late childhood up to early adulthood.
Symptoms: It is also like DMD but less severe and with slower disease progression.
Facioscapulohumeral Muscular Dystrophy (FSHD):
The onset is from Adolescence to early adulthood.
Symptoms: Numbness; poor tone of the face, shoulder and upper arm muscles; inability to hold/draw arms up and scapular winging.
Limb-Girdle Muscular Dystrophy (LGMD)
The onset is for Late adolescence to adulthood.
Symptoms: Muscle weakness in the hip, and shoulder regions.
Corticosteroids: Prednisone and deflazacort are oral corticosteroids which can be helpful to support slowing the rate of muscle deterioration together with increasing strength which can help in the case of Duchenne muscular dystrophy (DMD).
Disease-modifying Therapies: Other targeted therapies for example exon-skipping agents (eteplirsen) are still experimental and target genetic mutation.
Supportive Medications: Treatment of the associated complications, such as inflammation, pain, heart issues, or breathing difficulties.
Physical Therapy and Rehabilitation
Exercise Programs: Specific activities which will form part of the individualized programs will include; Muscle strength and flexibility and joint flexibility. These may include stretching exercises, resistance training exercises, and Aerobic exercises.
Assistive Devices: On the basis of the type of paralysis, the other measures include, use of orthotics or braces, use of wheel chairs so as to enable movement while avoiding complications such as contractures among others.
Surgical Interventions
Orthopedic Surgery: Arthroplasties or reconstructive operations for the joint or to adjust the joint that is stiff or deformed or they may perform a laminectomy for spinal curvature that is called scoliosis.
Tendon Release: Cutting shortening of tendons and increasing flexibility is a surgical process that is considered to be done.
Respiratory Care
Non-invasive Ventilation: Oxygen supplement with the help of CPAP or BiPAP to assist in breathing and treat respiratory muscles’ weakness.
Cough Assist Devices: The following are the steps through which the patient can attempt to soften the phlegm and minimize the probability of contracting chest infection.
Nutritional Support: Treating malnutrition and using techniques of feeding the patient with a possibility of a gastrostomy if the patient has swallowing disorders.
Orthopaedic Surgery
Physical Therapy: Flexible, and customized for each patient, with emphasis on the ability to retain muscle mass, flexibility, and power. Moderate exercises, including swimming and cycling for example should be encouraged. Simple movements to avoid contractures and increase joint mobility and flexibility. Braces and utilization of orthotic devices to enhance the strength of muscles that have been weakened as a result of the injury.
Occupational Therapy: Suggested lists for mobility aids to aid independence and prevent falls (wheelchairs, walkers, etc.)
Respiratory Care: Aerobic exercises that train lungs for better respiration, exercises that improve strength of the muscles around the lungs. Application of other equipment for example BiPAP (Bilevel Positive Airway Pressure) to patients with the respiratory muscle challenge. To promote lung clearance for people with respiratory problems and reduce the risk of developing an infection.
Nutritional Support: It needs to be noted that planning for proper nutrition is important to remain as lean and muscular as possible. Protein diets can be prescribed to enhance muscle formation and repair, mainly for athletes or individuals who engage in strenuous activities.
Psychosocial Support: Offering compassionate care and the appropriate intervention to patients and caregivers.
Orthopaedic Surgery
Prednisone: It is useful in DMD management at doses between 0. 75 mg/kg/day to 1. 5 mg/kg/day. This is believed to have therapeutic effect through suppression of cytotoxic T-cell activity in necrotic muscle tissue. However, the efficacy of such treatments may only be short-term and possible complications include effects like excessive weight gain, osteoporosis, muscle disease and stunted growth.
Deflazacort: It is a new generation corticosteroid from the prednisolone family and is a new therapeutic possibility for DMD. The recommended dosage confirmed by the FDA is 0. 9 mg/kg/day. It has shown efficacy for conditions like those that prednisone gives.
Orthopaedic Surgery
Vamorolone: It belongs to the group of steroidal anti-inflammatory preparations and is like traditional glucocorticoids in efficacy but has several differences, namely, it does not contain an 11-beta hydroxy-carbonyl group. This variation changes the way it binds to the glucocorticoid receptor, which changes its shape and functionality. It is used in the management of Duchenne muscular dystrophy which is a genetic disorder affecting boys in the age group of 2 years and above.
Orthopaedic Surgery
Eteplirsen: It is considered the first compound of the phosphorodiamidate morpholino oligomers (PMOs) class. It is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients with a genetic test confirming a mutation that will be responded to exon 51 skipping. It is a weekly administered intravenous solution.
Golodirsen: It is the second PMO approved for the treatment of Duchenne muscular dystrophy in patients with confirmed mutation in the dystrophin gene that enables the exon-53 skipping.
Viltolarsen: Specifically, it is an antisense oligonucleotide from the PMO class of drugs and is currently in Phase 2 of development. It localises to exon 53 of dystrophin pre-mRNA and causes its specific recognition and removal from the mRNA. It is approved for the treatment of Duchenne muscular dystrophy in patients having a mutation that would be suitable for exon 53 skipping.
Casimersen: It is PMO class antisense oligonucleotide targets exon 45 of dystrophin pre-mRNA to gain access to exon 45. This binding results in the removal of 45 exon during the processing of mRNA. Casimersen is an oligonucleotide therapeutic with the ultimate purpose of treating DMD and is approved to be used in patients who have a confirmed mutation that is likely to respond to a phenomenal exon 45 skipping.
Orthopaedic Surgery
Givinostat: It belongs to the sphere of pharmacotherapy for treating Duchenne muscular dystrophy in patients aged from six years with no regard to the kind of the disease’s genetic variant.
Orthopaedic Surgery
DelandistrogeneMoxeparvovec: It is a one-time gene therapy specifically for Duchenne muscular dystrophy in ambulant pediatric patients aged between 4 to 5 years with the confirmed mutation in the DMD gene.
Orthopaedic Surgery
Surgical Interventions:
Orthopedic Surgery: Some patients may undergo surgeries to correct joint abnormalities, spinal curvature, or contracture that characterizes muscular dystrophy disorder. For instance, spinal surgery involving fusion may be required in cases of scoliosis.
Tendon Release: In cases where tendons get tightened due to muscle weakness and contractures surgeries may be carried out to release or lengthen tendons.
Assistive Devices:
Bracing and Orthotics: Splinters or individual orthopedic appliances can also facilitate movement, assist in strengthening of slacking muscles and prevent the formation of contractures.
Powerchairs and Mobility Aids: If a person has severe mobility limitations, but wants to mobilise independently, then wheelchairs or power mobility aids are helpful.
Physical Therapy and Rehabilitation:
Stretching and Strengthening Exercises: Indeed, although exercises would not restore the lost muscles due to MD, they would assist in reducing stiffness and increasing strength and such movements if they can do.
Aquatic Therapy: Applying water exercises can lower effects on joints and improve the environment for people with joint pain to support Workout.
Orthopaedic Surgery
Managing muscular dystrophy involves a phased approach:
Early Phase: This has components of evaluation, maintaining a stable status, and actively managing side-effects using such approaches as exercises, teaching, and aids on mobility.
Intermediate Phase: Included with adapting the care needed because of progressive disability or the development of other issues as therapy, potential surgeries, or breathing aid.
Advanced Phase: Advanced respiratory support care, including symptom management and other aspects of palliative care to achieve the best quality of life and advance care planning.
Muscular dystrophy is generally the term that is used to describe several different inherited conditions characterized by the gradual deterioration of skeletal muscles. It occurs at an incidence of about 1 in 5,000 people and can occur at any age but is more frequently diagnosed in childhood. Muscular dystrophy is the result of genetic defects that alter those genes that are involved in the formation of muscle fibers and their functioning, which results in the gradual atrophy of different muscles.
Muscular dystrophy can be described as a group of hereditary diseases that involves progressive and comprehensive muscle disease whereby the muscles’ cell plasma membrane has a deficiency of glycoproteins. This noncommunicable disease comes in different forms but all these styles differ in terms of the mode of inheritance, the time of onset, and the rate of muscle deterioration. Muscular dystrophy comes in different forms and is genetically caused because of different genetic mutations. The muscular dystrophy impacts the skeletal muscles and the cardiac muscles.
Muscular dystrophy (MD) can be brought in different forms and the occurrence rate of each form of the disease may differ. Of all subtypes of MD, Duchenne MD is the most common, manifested in those with sex-linked inheritance, with the occurrence of 1 in 3500 live male births. In about one-third of these cases, the mutations are new and appeared for the first time in the affected individual. Becker MD is the second most frequent type, with an incidence of 1 in 30,000 live male births. Other forms of MD are rare; for example, limb-girdle dystrophy occurs in the frequency of 1. 3% of MD cases.
The rate of occurrence of most of the muscular dystrophies is almost equal to that of the USA, with only a few exceptions all over the world. For instance, oculopharyngeal muscular dystrophy is more common to French Canadians than to other population groups.
Duchenne muscular dystrophy (DMD) is a rapidly progressive degenerative disease that affects muscles, particularly the skeletal ones. The lack of dystrophin protein weakens the muscle fibre membrane and causes an influx of calcium ions into the fibre resulting in muscle fibre breakdown, inflammation and fibrosis. It manifests in the form of muscle weakness, reduced muscle mass, and rigidity of the lower limbs, pelvic girdle, and shoulder. Abnormal dystrophin affects the integrity of the muscle cell membrane, leading to muscle injury and increased blood levels of creatine kinase. The dystrophin-glycoprotein complex plays a critical role in the structural integrity of the sarcolemma. Consequently, deficiency in the DMD gene produces dystrophin, resulting in muscle atrophy and skeleton deformities, immobility, and fibrosis of cardiac and gastrointestinal muscles, which may affect brain structural formation.
Depending on the genetic basis, it is subdivided into sex-linked, autosomal recessive, and autosomal dominant MDs all of which have distinct clinical and pathological features. Other types of heritable MDs are Duchenne, Becker, Emery-Dreifuss, Facioscapulohumeral, Distal, Ocular, Oculopharyngeal and Limb-girdle MDs. Skeletal, smooth and cardiac muscles and the brain contain dystrophin and its gene and since it is a large gene, it is often mutated and therefore can create a situation where muscles possess unstable dystrophin. Emery Dreifuss is a X-linked recessive trait; it involves X chromosome at q28 locus. Considering autosomal recessive MDs, they are located at the chromosome 13q12 in limb-girdle MD. ADMDs sit on the 4q35 marker and 2q12-14 markers in Facioscapulohumeral and Distal MD respectively
However, currently there is no cure for muscular dystrophy (MD) even with all the latest developments in gene therapy and molecular biology. Many patients require extensive support for proper care and management; however, the life expectancy remains low because most patients die of cardiopulmonary failure before 30 years of age.
Age Group
Childhood: Duchenne Muscular Dystrophy (DMD) and began in early childhood while Becker Muscular Dystrophy (BMD) has been known to start in childhood.
Adolescence to Early Adulthood: These two are the FSHD and the EDMD and they are commonly diagnosed at a young age, specifically during the teenage years.
Adulthood: Autosomal Recessive: Limb-Girdle Muscular Dystrophy (LGMD) and Myotonic Dystrophy
Gower’s Sign: Assessing the patient’s capacity to get up from a chair or bed. Gower’s sign is a normal test wherein if the patient can use his/her hands to ‘walk’ up their legs as shown below it points towards proximal muscle weakness.
Range of Motion (ROM): Looking for the degree of the active joint contractures especially in the ankles and the elbow.
Facial Muscles: For facial weakness, possible observations may include inability to shut the eyes closely, to smile or puffy cheeks.
Cardiopulmonary Complications
Skeletal Deformities
Cognitive Impairments
Endocrine Issues
Eye and Hearing Problems
Duchenne Muscular Dystrophy (DMD)
The onset is in early childhood is preferred and is often observed between the ages of 2 and 5.
Symptoms: Problems with gross motor development: later than expected, falls often, has difficulty with running and jumping, presents with Gower’s sign.
Becker Muscular Dystrophy (BMD)
The onset is in late childhood up to early adulthood.
Symptoms: It is also like DMD but less severe and with slower disease progression.
Facioscapulohumeral Muscular Dystrophy (FSHD):
The onset is from Adolescence to early adulthood.
Symptoms: Numbness; poor tone of the face, shoulder and upper arm muscles; inability to hold/draw arms up and scapular winging.
Limb-Girdle Muscular Dystrophy (LGMD)
The onset is for Late adolescence to adulthood.
Symptoms: Muscle weakness in the hip, and shoulder regions.
Corticosteroids: Prednisone and deflazacort are oral corticosteroids which can be helpful to support slowing the rate of muscle deterioration together with increasing strength which can help in the case of Duchenne muscular dystrophy (DMD).
Disease-modifying Therapies: Other targeted therapies for example exon-skipping agents (eteplirsen) are still experimental and target genetic mutation.
Supportive Medications: Treatment of the associated complications, such as inflammation, pain, heart issues, or breathing difficulties.
Physical Therapy and Rehabilitation
Exercise Programs: Specific activities which will form part of the individualized programs will include; Muscle strength and flexibility and joint flexibility. These may include stretching exercises, resistance training exercises, and Aerobic exercises.
Assistive Devices: On the basis of the type of paralysis, the other measures include, use of orthotics or braces, use of wheel chairs so as to enable movement while avoiding complications such as contractures among others.
Surgical Interventions
Orthopedic Surgery: Arthroplasties or reconstructive operations for the joint or to adjust the joint that is stiff or deformed or they may perform a laminectomy for spinal curvature that is called scoliosis.
Tendon Release: Cutting shortening of tendons and increasing flexibility is a surgical process that is considered to be done.
Respiratory Care
Non-invasive Ventilation: Oxygen supplement with the help of CPAP or BiPAP to assist in breathing and treat respiratory muscles’ weakness.
Cough Assist Devices: The following are the steps through which the patient can attempt to soften the phlegm and minimize the probability of contracting chest infection.
Nutritional Support: Treating malnutrition and using techniques of feeding the patient with a possibility of a gastrostomy if the patient has swallowing disorders.
Orthopaedic Surgery
Physical Therapy: Flexible, and customized for each patient, with emphasis on the ability to retain muscle mass, flexibility, and power. Moderate exercises, including swimming and cycling for example should be encouraged. Simple movements to avoid contractures and increase joint mobility and flexibility. Braces and utilization of orthotic devices to enhance the strength of muscles that have been weakened as a result of the injury.
Occupational Therapy: Suggested lists for mobility aids to aid independence and prevent falls (wheelchairs, walkers, etc.)
Respiratory Care: Aerobic exercises that train lungs for better respiration, exercises that improve strength of the muscles around the lungs. Application of other equipment for example BiPAP (Bilevel Positive Airway Pressure) to patients with the respiratory muscle challenge. To promote lung clearance for people with respiratory problems and reduce the risk of developing an infection.
Nutritional Support: It needs to be noted that planning for proper nutrition is important to remain as lean and muscular as possible. Protein diets can be prescribed to enhance muscle formation and repair, mainly for athletes or individuals who engage in strenuous activities.
Psychosocial Support: Offering compassionate care and the appropriate intervention to patients and caregivers.
Orthopaedic Surgery
Prednisone: It is useful in DMD management at doses between 0. 75 mg/kg/day to 1. 5 mg/kg/day. This is believed to have therapeutic effect through suppression of cytotoxic T-cell activity in necrotic muscle tissue. However, the efficacy of such treatments may only be short-term and possible complications include effects like excessive weight gain, osteoporosis, muscle disease and stunted growth.
Deflazacort: It is a new generation corticosteroid from the prednisolone family and is a new therapeutic possibility for DMD. The recommended dosage confirmed by the FDA is 0. 9 mg/kg/day. It has shown efficacy for conditions like those that prednisone gives.
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Vamorolone: It belongs to the group of steroidal anti-inflammatory preparations and is like traditional glucocorticoids in efficacy but has several differences, namely, it does not contain an 11-beta hydroxy-carbonyl group. This variation changes the way it binds to the glucocorticoid receptor, which changes its shape and functionality. It is used in the management of Duchenne muscular dystrophy which is a genetic disorder affecting boys in the age group of 2 years and above.
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Eteplirsen: It is considered the first compound of the phosphorodiamidate morpholino oligomers (PMOs) class. It is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients with a genetic test confirming a mutation that will be responded to exon 51 skipping. It is a weekly administered intravenous solution.
Golodirsen: It is the second PMO approved for the treatment of Duchenne muscular dystrophy in patients with confirmed mutation in the dystrophin gene that enables the exon-53 skipping.
Viltolarsen: Specifically, it is an antisense oligonucleotide from the PMO class of drugs and is currently in Phase 2 of development. It localises to exon 53 of dystrophin pre-mRNA and causes its specific recognition and removal from the mRNA. It is approved for the treatment of Duchenne muscular dystrophy in patients having a mutation that would be suitable for exon 53 skipping.
Casimersen: It is PMO class antisense oligonucleotide targets exon 45 of dystrophin pre-mRNA to gain access to exon 45. This binding results in the removal of 45 exon during the processing of mRNA. Casimersen is an oligonucleotide therapeutic with the ultimate purpose of treating DMD and is approved to be used in patients who have a confirmed mutation that is likely to respond to a phenomenal exon 45 skipping.
Orthopaedic Surgery
Givinostat: It belongs to the sphere of pharmacotherapy for treating Duchenne muscular dystrophy in patients aged from six years with no regard to the kind of the disease’s genetic variant.
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DelandistrogeneMoxeparvovec: It is a one-time gene therapy specifically for Duchenne muscular dystrophy in ambulant pediatric patients aged between 4 to 5 years with the confirmed mutation in the DMD gene.
Orthopaedic Surgery
Surgical Interventions:
Orthopedic Surgery: Some patients may undergo surgeries to correct joint abnormalities, spinal curvature, or contracture that characterizes muscular dystrophy disorder. For instance, spinal surgery involving fusion may be required in cases of scoliosis.
Tendon Release: In cases where tendons get tightened due to muscle weakness and contractures surgeries may be carried out to release or lengthen tendons.
Assistive Devices:
Bracing and Orthotics: Splinters or individual orthopedic appliances can also facilitate movement, assist in strengthening of slacking muscles and prevent the formation of contractures.
Powerchairs and Mobility Aids: If a person has severe mobility limitations, but wants to mobilise independently, then wheelchairs or power mobility aids are helpful.
Physical Therapy and Rehabilitation:
Stretching and Strengthening Exercises: Indeed, although exercises would not restore the lost muscles due to MD, they would assist in reducing stiffness and increasing strength and such movements if they can do.
Aquatic Therapy: Applying water exercises can lower effects on joints and improve the environment for people with joint pain to support Workout.
Orthopaedic Surgery
Managing muscular dystrophy involves a phased approach:
Early Phase: This has components of evaluation, maintaining a stable status, and actively managing side-effects using such approaches as exercises, teaching, and aids on mobility.
Intermediate Phase: Included with adapting the care needed because of progressive disability or the development of other issues as therapy, potential surgeries, or breathing aid.
Advanced Phase: Advanced respiratory support care, including symptom management and other aspects of palliative care to achieve the best quality of life and advance care planning.
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