Distal hereditary motor neuropathy, Jerash type

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Synonyms: Autosomal recessive distal spinal muscular atrophy type 2 | dHMNJ

A rare genetic neuromuscular disease characterized by progressive symmetrical moderate to severe distal muscle weakness and atrophy without sensory involvement first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop pes varus hammer toes and claw hands. Pyramidal tract signs (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Distal hereditary motor neuropathy, Jerash type?

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