Abstract
A 43 year old man presents with a 20 year history of progressive lower limb weakness. He has no sensory symptoms. There is no family history of neurological disease. Nerve conduction studies reveal normal sensory responses with reduced or absent motor responses in the upper and lower limbs. Genetic testing reveals a heterozygous mutation in the Heat Shock Protein B1 (HSPB1) gene confirming the diagnosis of distal hereditary motor neuropathy.
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References
Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry. 2009;80(12):1304–14.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2012;83(1):6–14.
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Mahdi-Rogers, M., Laurá, M., Reilly, M.M. (2017). Progressive Motor Weakness in a Somalian Man. In: Manji, H., Turner, C., Evans, M. (eds) Neuromuscular Disease . Springer, London. https://doi.org/10.1007/978-1-4471-2389-7_13
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DOI: https://doi.org/10.1007/978-1-4471-2389-7_13
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