Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is autosomal-recessive arylsulfatase-A deficiency causing sulfatide accumulation and central/peripheral demyelination. Forms: late-infantile (most common, gait disturbance, hypotonia, mental regression), juvenile, adult. Progressive ataxia, spasticity, dementia, peripheral neuropathy. Early hematopoietic stem-cell transplant or gene therapy may slow pre-symptomatic disease; otherwise supportive.

Common Symptoms

Gait disturbance; hypotonia; ataxia; mental/motor regression; peripheral neuropathy; optic atrophy; spasticity

Causes and Pathogenesis

Arylsulfatase-A deficiency causes sulfatide accumulation in myelin, causing progressive central and peripheral demyelination.

Treatment

HSCT/gene therapy in early/pre-symptomatic stage; supportive (physical/neuro care); palliative

Preventive Measures

Genetic counseling; family screening; early recognition for transplant window.

Department to Visit

It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.