Charcot-Marie-Tooth disease type 4D

Get in touch with RARE Concierge.

Contact RARE Concierge

Charcot-Marie-Tooth disease type 4D

Synonyms: CMT4D | HMSN, Lom type | HMSN-Lom | Hereditary motor and sensory neuropathy, Lom type

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe progressive demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy sensorineural hearing impairment leading to deafness (usually in third decade) severely reduced nerve conduction velocities and skeletal especially foot deformities. Tongue atrophy has also been reported.

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 March 2024

Newly diagnosed with
Charcot-Marie-Tooth disease type 4D?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

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