Abstract |
A 32 year old male is described with an onset of upper limb postural tremor in adolescence followed by muscle cramps. Progressive proximal amyotrophy and weakness in the limbs developed late in the third decade. Examination disclosed, in addition, bilateral facial weakness and mild dysarthria. Enzyme studies revealed hexosaminidase A and B deficiency, indicating a diagnosis of Sandhoff disease. Intra-axonal membranocytoplasmic bodies were present in a rectal biopsy. The presentation, which resembled that of X-linked bulbospinal neuronopathy, widens the clinical spectrum for disorders related to G(M2) gangliosidosis.
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Authors | P K Thomas, E Young, R H King |
Journal | Journal of neurology, neurosurgery, and psychiatry
(J Neurol Neurosurg Psychiatry)
Vol. 52
Issue 9
Pg. 1103-6
(Sep 1989)
ISSN: 0022-3050 [Print] England |
PMID | 2795083
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adult
- Diagnosis, Differential
- Hexosaminidases
(metabolism)
- Humans
- Male
- Nervous System Diseases
(diagnosis)
- Sandhoff Disease
(diagnosis, pathology, physiopathology)
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