Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis
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Taylor and Francis Ltd
Abstract
Sandhoff disease is an under-recognized disease that may present as a lower motor neuron disorder in adulthood. We report the case of siblings presenting in their late 40s with a motor neuron disease phenotype and were misdiagnosed as amyotrophic lateral sclerosis and later found to have Sandhoff disease. Sandhoff disease should be considered in patients presenting with a slowly progressive predominately lower motor neuron disorder. A simple low-cost blood test can confirm the diagnosis. © 2019, © 2019 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases.
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Keywords
Hexosaminidase, Motor neuron disease, Sandhoff disease, Age of onset, Amyotrophic lateral sclerosis, Diagnosis, differential, Humans, Male, Middle aged, Mutation, Phenotype, Beta n acetylhexosaminidase, Adult, Article, Blood analysis, Case report, Clinical article, Diagnostic error, Electromyography, Enzyme activity, Female, Human, Nerve conduction, Nuclear magnetic resonance imaging, Onset age, Priority journal, Symptomatology, Differential diagnosis, Genetics