Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Synonyms: Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons | CMT2 with giant axons | HMSN2 with giant axons
A rare subtype of axonal hereditary motor and sensory neuropathy characterized by distal muscle weakness and atrophy (principally of peroneal muscles) associated with distal sensory loss (tactile vibration) pes cavus present since infancy or childhood and axonal swelling with neurofilament accumulation on nerve biopsy. Other features may include hand muscle involvement hypo/arreflexia gait disturbances muscle cramps toe abnormalities and mild cardiomyopathy.
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 October 2023.
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Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons?
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Advocacy Organizations
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.
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.
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.
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.