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Thursday, February 3, 2011


Metachromatic leukodystrophy, the commonest of the leukodystrophies, is an autososmal disorders due to deficiency of aryl sulfatase A in brain and other tissue.

Manifestations, appearing at about 1 year of age, include gait disturbances, spasticity, hypereflexia, extensor plantars, brisk tendon reflexes with the exception of ankle jerk which may be sluggish or absent, flaccid weakness and wasting of muscles and, eventually , dementia and immobility.
Most patients are dead by the age of 10 years, Prenatal diagnosis by amniocentesis is possible.

1 comment:

  1. Good evening sir, is there any physiotherapy protocol found to be beneficial in any type of MLD?


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