Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

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Synonyms: CMT2 due to KIF5A mutation

A rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles mild sensory deficits of position vibration and pain/temperature pes cavus and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity hyperreflexia). Spasticity and pain may be the presenting symptoms.

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 June 2024

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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation?

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Advocacy Organizations

DYNC1H1 Association

Our mission is to improve the lives of people with mutations in the DYNC1H1 gene and to create opportunities for research on DYNC1H1 with a constant drive towards low-risk, high reward treatments. Our commitment to our community is to forge support networks within the diagnosed persons, providers, and outside community to make the wait for treatments easier.

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.

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Clinical Trials

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