Autosomal dominant Charcot-Marie-Tooth disease type 2V

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Autosomal dominant Charcot-Marie-Tooth disease type 2V

Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation | CMT2V | Hereditary adult-onset painful axonal polyneuropathy

A rare axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps progressive loss of deep tendon reflexes and vibration sense paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.

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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Autosomal dominant Charcot-Marie-Tooth disease type 2V?

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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.

Precision Healthcare Ecosystem

Mission –  to transform healthcare toward a more collaborative model by amplifying patient and community voices through data-informed processes. Vision – a world of people empowered to realize optimal health. Purpose: To help people feel seen, heard, and respected so they feel empowered to take ownership of their health.

Clinical Trials

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