Digital extensor muscle aplasia-polyneuropathy

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Digital extensor muscle aplasia-polyneuropathy

Synonyms: Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy | Hamanishi-Ueba-Tsuji syndrome | Polyneuropathy-hand defect syndrome

Digital extensor muscle aplasia-polyneuropathy is a rare hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.

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 Data version December 2023

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Digital extensor muscle aplasia-polyneuropathy?

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Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Clinical Trials

For a list of clinical trials in this disease area, please click here.