Charcot-Marie-Tooth disease type 2C (CMT2C) is a very rare form of CMT. Individuals with this condition may have diaphragm or vocal cord paresis in addition to the other problems associated with CMT. Mild sensory loss has also been noted in some individuals. CMT type 2C is caused by mutations in the TRPV4 gene on chromosome 12q24.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal dominant inheritance||-|
|Decreased distal sensory nerve action potential||-|
|Distal muscle weakness||-|
|Distal sensory impairment||-|
|Foot dorsiflexor weakness||-|
|Hand muscle atrophy||-|
|Intercostal muscle weakness||-|
|Obstructive sleep apnea||-|
|Oculomotor nerve palsy||-|
|Sensorineural hearing impairment||-|
|Shoulder girdle muscle atrophy||-|
|Vocal cord paresis||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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My wife has Charcot-Marie-Tooth disease type 2C. What is the prognosis for individuals with this condition? See answer