Definition
Metachromatic leukodystrophy is a lysosomal storage disease characterized by progressive neurological impairment and demyelination, resulting from arylsulfatase A enzyme deficiency.
Symptoms
- Gait disturbance
- Cognitive decline
- Peripheral neuropathy
- Dementia
Reasons
ARSA gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Bone marrow transplant.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of status epilepticus, emergency services should be consulted.
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