What is the role of hexosaminidase deficiencies in the etiology of focal muscular atrophy (FMA)?

Updated: Feb 20, 2018
  • Author: Sridharan Ramaratnam, MD, MBBS; Chief Editor: Helmi L Lutsep, MD  more...
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Answer

Hexosaminidase deficiency

  • Juvenile SMA and a syndrome that mimics ALS have been described with hexosaminidase deficiency (primarily in Ashkenazi Jews).

  • The onset is usually in childhood or adolescence with features of psychosis, dementia, ataxia, stuttering dysarthria, and peripheral neuropathy.

  • Hexosaminidase A deficiency can be demonstrated in serum, leukocytes, or skin fibroblasts.

  • Rectal biopsy specimens show characteristic membranous cytoplasmic bodies in ganglion cells of the mucosa.

  • The disorder is much more slowly progressive than classical ALS.


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