Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
case_report · Level V
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- Record sourced from PubMed, PMID 8530938.
- Also identified by PMC identifier 1073716.
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Abstract
Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent mechanoallodynia was a manifesting symptom in two siblings. It is suggested that sensory deficits are due to a central-peripheral dying back axonopathy. The early and dominant sensory disturbances extend the clinical range of GM2-gangliosidosis.
Medical subject headings
- Sandhoff Disease
- Sensation Disorders
- beta-N-Acetylhexosaminidases