This rare and severe nervous system disorder is brought on by mutations in the GALC gene. slowed development, stiffness in the muscles, Irritability, and difficulty eating are the usual symptoms of this disorder. it is categorized into two categories that includes Late-onset or early-onset with the latter being milder. The disorder is mostly seen in ethnic communities like Italians and Scandinavians.
Epidemiology
The condition affects between 1 in 100,000 and 150,000 live births. Prevalence rates however could vary amongst different groups. It seems that some ethnic groups have a greater frequency of Krabbe illness. It is more prevalent among people of Scandinavian heritage especially in Sweden and in those of Italian descent particularly in Calabria.
Anatomy
Pathophysiology
Krabbe disease is inherited when both GALC gene copies are faulty causing absence or deficiency of GALC enzyme activity. GALC breaks down galactolipids but when inactive these accumulate particularly in myelin-forming cells. This leads to gradual demyelination hindering nerve signal transmission and causing inflammation.
Etiology
Two defective genes from each parent causes Krabbe disease These genes alter the GALC gene on chromosome 14, which prevents galactosylceramidase from functioning. This deficiency causes a buildup of galactosylceramide and similar lipids in lysosomes, especially in the central nervous system causing cell injury inflammation, and myelin degeneration.
Genetics
Prognostic Factors
The severity of symptoms and the age at which they first appear determine different Krabbe disease prognostic variables. In generalimproving outcomes often requires early identification and intervention especially in situations involving infants.
Clinical History
Infantile-Onset Krabbe Disease:
Age of Onset: Typically, within the first few months of life, usually before six months of age.
Clinical Presentation:
Irritability and inconsolable crying.
Feeding difficulties and failure to thrive.
Developmental regression, including loss of previously acquired milestones such as head control and ability to track objects.
Hypertonia and hyperreflexia.
Optic nerve atrophy leading to vision impairment or blindness.
Seizures.
Physical Examination
It assesses the following parameters:
Skin Examination
Neurological examination
Orthopedic Examination
Developmental Assessment
Behavioural and Cognitive Assessment
Sensory Examination
Optic Examination
Age group
Associated comorbidity
Individuals who are suffering from Krabbe disease shows symptoms of neurological and feeding difficulties and intellectual disability.
Associated activity
Acuity of presentation
Rapid and severe progression, with significant neurological decline and shortened lifespan if untreated.
Late-Onset Krabbe Disease (Juvenile and Adult-Onset):
Age of Onset: Can vary widely, from late infancy to adulthood.
Hematopoietic Stem Cell Transplantation: It is using hematopoietic stem cells to replace bone marrow. It uses donor cells to replace the bone marrow.
Gene Therapy: This gives cells functional copies of the GALC gene which restores enzyme activity and reduces the accumulation of harmful substrate and offers promise for those not qualified for hemodialysis.
Enzyme Replacement Therapy: ERT involves administering recombinant GALC enzyme to individuals with Krabbe disease to supplement the deficient enzyme activity.
Symptomatic and Palliative Care:
As the disease progresses, individuals with Krabbe disease may require increasingly intensive supportive and palliative care to manage symptoms and maintain comfort and dignity.
Physical Therapy: Crucial for Krabbe disease; maintains/improves mobility, strength, flexibility through exercises and stretching.
Occupational Therapy: Enhances daily living activities; provides strategies and adaptive equipment for self-care tasks.
Speech Therapy: Addresses communication issues in Krabbe disease; improves speech and language skills.
Assistive devices and adaptive equipment aid mobility for those with Krabbe disease.
Use of HSCT in treating Krabbe disease
This consist of adding healthy cells to the synthesis of GALC. That reduces the toxic accumulation to delay the course of disease.
Use of gene therapy for the treatment of Krabbe disease
The main purpose of gene therapy is to address the mutations caused in the GALC gene.
Viral vectors deliver functional GALC gene into patient’s cells.
Ex vivo gene therapy modifies patient’s cells outside the body and reintroduces them.
In vivo gene therapy delivers therapy directly into patient’s body and targeting tissues or organs.
Use of In vivo gene therapy for the treatment of Krabbe disease
There is an excellent promise in in vivo gene therapy e.g., Krabbe’s disease for the treatment of human disorders. In this method, the therapeutic gene is transferred into the patient’s body to specifically target the tissues and organs influenced by the defective gene. In vivo therapy proves to be more advantageous in comparison to ex vivo gene therapy.
Viral Vector Delivery: The viral vectors are used to introduce the GALC gene, usually adeno-associated virus: AAV, lentiviral and are either given directly injected into the patient’s central nervous system or given intravenously and according to the tissues targeted. When the viruses infect a cell, and the therapeutic gene is delivered with it and making the cell produce the GALC enzyme.
Non-viral delivery systems, like lipid nanoparticles and polymer-based vehicles, are studied for gene therapy.
The intervention works on the following therapies:
Pain Management
Symptomatic Treatments
Respiratory Support
Nutritional Support
Physical Therapy
use-of-management-in-treating-krabbe-disease
The pre-symptomatic phase which focuses on early intervention to stop or postpone disease development and happens before obvious symptoms appear in newborns detected by newborn screening or family history.
Early Symptomatic Phase of Krabbe Disease include the emergence of eating disorders, developmental delays, irritability, and muscle weakness. physical therapy, occupational therapy, HSCT and nutritional support are among the treatments.
The severity of the symptoms is typically seen in the late symptomatic phase of krabbe disease that required the supportive intervention and pallitative care to improve the life quality.
The interventions work on the control of pain, checking the nutritional status of individual & respiratory support. As the condition progresses and end-of-life care becomes more important with the goal of supporting the patient’s family and preserving their dignity. Palliative care services can be required.
This rare and severe nervous system disorder is brought on by mutations in the GALC gene. slowed development, stiffness in the muscles, Irritability, and difficulty eating are the usual symptoms of this disorder. it is categorized into two categories that includes Late-onset or early-onset with the latter being milder. The disorder is mostly seen in ethnic communities like Italians and Scandinavians.
The condition affects between 1 in 100,000 and 150,000 live births. Prevalence rates however could vary amongst different groups. It seems that some ethnic groups have a greater frequency of Krabbe illness. It is more prevalent among people of Scandinavian heritage especially in Sweden and in those of Italian descent particularly in Calabria.
Krabbe disease is inherited when both GALC gene copies are faulty causing absence or deficiency of GALC enzyme activity. GALC breaks down galactolipids but when inactive these accumulate particularly in myelin-forming cells. This leads to gradual demyelination hindering nerve signal transmission and causing inflammation.
Two defective genes from each parent causes Krabbe disease These genes alter the GALC gene on chromosome 14, which prevents galactosylceramidase from functioning. This deficiency causes a buildup of galactosylceramide and similar lipids in lysosomes, especially in the central nervous system causing cell injury inflammation, and myelin degeneration.
The severity of symptoms and the age at which they first appear determine different Krabbe disease prognostic variables. In generalimproving outcomes often requires early identification and intervention especially in situations involving infants.
Infantile-Onset Krabbe Disease:
Age of Onset: Typically, within the first few months of life, usually before six months of age.
Clinical Presentation:
Irritability and inconsolable crying.
Feeding difficulties and failure to thrive.
Developmental regression, including loss of previously acquired milestones such as head control and ability to track objects.
Hypertonia and hyperreflexia.
Optic nerve atrophy leading to vision impairment or blindness.
Seizures.
It assesses the following parameters:
Skin Examination
Neurological examination
Orthopedic Examination
Developmental Assessment
Behavioural and Cognitive Assessment
Sensory Examination
Optic Examination
Individuals who are suffering from Krabbe disease shows symptoms of neurological and feeding difficulties and intellectual disability.
Rapid and severe progression, with significant neurological decline and shortened lifespan if untreated.
Late-Onset Krabbe Disease (Juvenile and Adult-Onset):
Age of Onset: Can vary widely, from late infancy to adulthood.
Hematopoietic Stem Cell Transplantation: It is using hematopoietic stem cells to replace bone marrow. It uses donor cells to replace the bone marrow.
Gene Therapy: This gives cells functional copies of the GALC gene which restores enzyme activity and reduces the accumulation of harmful substrate and offers promise for those not qualified for hemodialysis.
Enzyme Replacement Therapy: ERT involves administering recombinant GALC enzyme to individuals with Krabbe disease to supplement the deficient enzyme activity.
Symptomatic and Palliative Care:
As the disease progresses, individuals with Krabbe disease may require increasingly intensive supportive and palliative care to manage symptoms and maintain comfort and dignity.
Genomic Medicine
Physical Therapy: Crucial for Krabbe disease; maintains/improves mobility, strength, flexibility through exercises and stretching.
Occupational Therapy: Enhances daily living activities; provides strategies and adaptive equipment for self-care tasks.
Speech Therapy: Addresses communication issues in Krabbe disease; improves speech and language skills.
Assistive devices and adaptive equipment aid mobility for those with Krabbe disease.
This consist of adding healthy cells to the synthesis of GALC. That reduces the toxic accumulation to delay the course of disease.
The main purpose of gene therapy is to address the mutations caused in the GALC gene.
Viral vectors deliver functional GALC gene into patient’s cells.
Ex vivo gene therapy modifies patient’s cells outside the body and reintroduces them.
In vivo gene therapy delivers therapy directly into patient’s body and targeting tissues or organs.
There is an excellent promise in in vivo gene therapy e.g., Krabbe’s disease for the treatment of human disorders. In this method, the therapeutic gene is transferred into the patient’s body to specifically target the tissues and organs influenced by the defective gene. In vivo therapy proves to be more advantageous in comparison to ex vivo gene therapy.
Viral Vector Delivery: The viral vectors are used to introduce the GALC gene, usually adeno-associated virus: AAV, lentiviral and are either given directly injected into the patient’s central nervous system or given intravenously and according to the tissues targeted. When the viruses infect a cell, and the therapeutic gene is delivered with it and making the cell produce the GALC enzyme.
Non-viral delivery systems, like lipid nanoparticles and polymer-based vehicles, are studied for gene therapy.
The intervention works on the following therapies:
Pain Management
Symptomatic Treatments
Respiratory Support
Nutritional Support
Physical Therapy
The pre-symptomatic phase which focuses on early intervention to stop or postpone disease development and happens before obvious symptoms appear in newborns detected by newborn screening or family history.
Early Symptomatic Phase of Krabbe Disease include the emergence of eating disorders, developmental delays, irritability, and muscle weakness. physical therapy, occupational therapy, HSCT and nutritional support are among the treatments.
The severity of the symptoms is typically seen in the late symptomatic phase of krabbe disease that required the supportive intervention and pallitative care to improve the life quality.
The interventions work on the control of pain, checking the nutritional status of individual & respiratory support. As the condition progresses and end-of-life care becomes more important with the goal of supporting the patient’s family and preserving their dignity. Palliative care services can be required.
This rare and severe nervous system disorder is brought on by mutations in the GALC gene. slowed development, stiffness in the muscles, Irritability, and difficulty eating are the usual symptoms of this disorder. it is categorized into two categories that includes Late-onset or early-onset with the latter being milder. The disorder is mostly seen in ethnic communities like Italians and Scandinavians.
The condition affects between 1 in 100,000 and 150,000 live births. Prevalence rates however could vary amongst different groups. It seems that some ethnic groups have a greater frequency of Krabbe illness. It is more prevalent among people of Scandinavian heritage especially in Sweden and in those of Italian descent particularly in Calabria.
Krabbe disease is inherited when both GALC gene copies are faulty causing absence or deficiency of GALC enzyme activity. GALC breaks down galactolipids but when inactive these accumulate particularly in myelin-forming cells. This leads to gradual demyelination hindering nerve signal transmission and causing inflammation.
Two defective genes from each parent causes Krabbe disease These genes alter the GALC gene on chromosome 14, which prevents galactosylceramidase from functioning. This deficiency causes a buildup of galactosylceramide and similar lipids in lysosomes, especially in the central nervous system causing cell injury inflammation, and myelin degeneration.
The severity of symptoms and the age at which they first appear determine different Krabbe disease prognostic variables. In generalimproving outcomes often requires early identification and intervention especially in situations involving infants.
Infantile-Onset Krabbe Disease:
Age of Onset: Typically, within the first few months of life, usually before six months of age.
Clinical Presentation:
Irritability and inconsolable crying.
Feeding difficulties and failure to thrive.
Developmental regression, including loss of previously acquired milestones such as head control and ability to track objects.
Hypertonia and hyperreflexia.
Optic nerve atrophy leading to vision impairment or blindness.
Seizures.
It assesses the following parameters:
Skin Examination
Neurological examination
Orthopedic Examination
Developmental Assessment
Behavioural and Cognitive Assessment
Sensory Examination
Optic Examination
Individuals who are suffering from Krabbe disease shows symptoms of neurological and feeding difficulties and intellectual disability.
Rapid and severe progression, with significant neurological decline and shortened lifespan if untreated.
Late-Onset Krabbe Disease (Juvenile and Adult-Onset):
Age of Onset: Can vary widely, from late infancy to adulthood.
Hematopoietic Stem Cell Transplantation: It is using hematopoietic stem cells to replace bone marrow. It uses donor cells to replace the bone marrow.
Gene Therapy: This gives cells functional copies of the GALC gene which restores enzyme activity and reduces the accumulation of harmful substrate and offers promise for those not qualified for hemodialysis.
Enzyme Replacement Therapy: ERT involves administering recombinant GALC enzyme to individuals with Krabbe disease to supplement the deficient enzyme activity.
Symptomatic and Palliative Care:
As the disease progresses, individuals with Krabbe disease may require increasingly intensive supportive and palliative care to manage symptoms and maintain comfort and dignity.
Genomic Medicine
Physical Therapy: Crucial for Krabbe disease; maintains/improves mobility, strength, flexibility through exercises and stretching.
Occupational Therapy: Enhances daily living activities; provides strategies and adaptive equipment for self-care tasks.
Speech Therapy: Addresses communication issues in Krabbe disease; improves speech and language skills.
Assistive devices and adaptive equipment aid mobility for those with Krabbe disease.
This consist of adding healthy cells to the synthesis of GALC. That reduces the toxic accumulation to delay the course of disease.
The main purpose of gene therapy is to address the mutations caused in the GALC gene.
Viral vectors deliver functional GALC gene into patient’s cells.
Ex vivo gene therapy modifies patient’s cells outside the body and reintroduces them.
In vivo gene therapy delivers therapy directly into patient’s body and targeting tissues or organs.
There is an excellent promise in in vivo gene therapy e.g., Krabbe’s disease for the treatment of human disorders. In this method, the therapeutic gene is transferred into the patient’s body to specifically target the tissues and organs influenced by the defective gene. In vivo therapy proves to be more advantageous in comparison to ex vivo gene therapy.
Viral Vector Delivery: The viral vectors are used to introduce the GALC gene, usually adeno-associated virus: AAV, lentiviral and are either given directly injected into the patient’s central nervous system or given intravenously and according to the tissues targeted. When the viruses infect a cell, and the therapeutic gene is delivered with it and making the cell produce the GALC enzyme.
Non-viral delivery systems, like lipid nanoparticles and polymer-based vehicles, are studied for gene therapy.
The intervention works on the following therapies:
Pain Management
Symptomatic Treatments
Respiratory Support
Nutritional Support
Physical Therapy
The pre-symptomatic phase which focuses on early intervention to stop or postpone disease development and happens before obvious symptoms appear in newborns detected by newborn screening or family history.
Early Symptomatic Phase of Krabbe Disease include the emergence of eating disorders, developmental delays, irritability, and muscle weakness. physical therapy, occupational therapy, HSCT and nutritional support are among the treatments.
The severity of the symptoms is typically seen in the late symptomatic phase of krabbe disease that required the supportive intervention and pallitative care to improve the life quality.
The interventions work on the control of pain, checking the nutritional status of individual & respiratory support. As the condition progresses and end-of-life care becomes more important with the goal of supporting the patient’s family and preserving their dignity. Palliative care services can be required.
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