Free Online ICD-9-CM Diagnosis Codes > 2009 > Diseases Of The Nervous System And Sense Organs 320-389 > Hereditary And Degenerative Diseases Of The Central Nervous System 330-337 > Cerebral degenerations usually manifest in childhood 330.* >
group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration.
autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.
Also applicable to/known as
Amaurotic (familial) idiocy
Disease:
Batten
Jansky-Bielschowsky
Kufs'
Spielmeyer-Vogt
Tay-Sachs
Gangliosidosis
ICD-9-CM Volume 2 Index Entries That Refer To 330.1
2009 ICD-9-CM Diagnosis Code 330.1
330.1
