Friday, May 1, 2009

Metachromatic Leukodystrophy:
Arylsulphatase A deficiency
It has
slurred speech
nystangmus ,
optic atrophy
absent deep tendon reflexes

Note:Freidrich ataxis has explosive speech, nystagmus and hypotonia , absent deep tendon reflexes while Lesh nyhan has spasticity along with self-mutilation.

Krabbes' disease:Myelin destruction
Deficincy of galactocerebroside beta galactosidase and Symptoms appear in first few months.
Crying, feeding problems ,ophisthotonus and optic atrophy

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