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. 1989 Sep;52(9):1103–1106. doi: 10.1136/jnnp.52.9.1103

Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

P K Thomas 1, E Young 1, R H King 1
PMCID: PMC1031750  PMID: 2795083

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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