Charcot-Marie-Tooth disease axonal type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
Also known as: CMT2C, Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4, HMSN2C, TRPV4 Charcot-Marie-Tooth disease type 2, autosomal dominant Charcot-Marie-Tooth disease type 2C, CMT 2C, Charcot Marie Tooth disease type 2C, Charcot-Marie-Tooth disease type 2C, Charcot-Marie-Tooth disease, axonal, type 2C, HMSN 2 C.
Category: General
Symptoms associated with Charcot-Marie-Tooth disease axonal type 2C
The following symptoms have been associated with Charcot-Marie-Tooth disease axonal type 2C in medical literature. Not everyone experiences the same symptoms.
Diaphragmatic weakness
A decrease in the strength of the diaphragm....
Distal lower limb muscle weakness
Reduced strength of the distal musculature of the legs....
Distal upper limb muscle weakness
Reduced strength of the distal musculature of the arms....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Intercostal muscle weakness
Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and...
Proximal upper limb muscle weakness
A lack of strength of the proximal muscles of the arms....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Urinary incontinence
Loss of the ability to control the urinary bladder leading to involuntary urination....
Vocal cord paresis
Decreased strength of the vocal folds....
Tests used to investigate Charcot-Marie-Tooth disease axonal type 2C
Healthcare providers may order these tests when evaluating Charcot-Marie-Tooth disease axonal type 2C. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Charcot-Marie-Tooth disease axonal type 2C, which is why a clinical evaluation is important.
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Y is a medical condition that may be associated with vari...
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z is a medical condition that may be associated with vari...
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1F is a medical condition that may be associated with various symptoms and si...
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 is a medical condition that may be associated with various symptoms and s...
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LM...
Oculopharyngodistal myopathy
Oculopharyngodistal myopathy is a medical condition that may be associated with various symptoms and signs....
Frequently Asked Questions
What is Charcot-Marie-Tooth disease axonal type 2C?
Charcot-Marie-Tooth disease axonal type 2C is a health condition described in medical literature. Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
What are the symptoms of Charcot-Marie-Tooth disease axonal type 2C?
Charcot-Marie-Tooth disease axonal type 2C is associated with 9 symptoms in the medical literature we index, including Diaphragmatic weakness, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Foot dorsiflexor weakness, Intercostal muscle weakness, Proximal upper limb muscle weakness. Symptoms vary widely between individuals.
How is Charcot-Marie-Tooth disease axonal type 2C diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Charcot-Marie-Tooth disease axonal type 2C include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Charcot-Marie-Tooth disease axonal type 2C, please discuss your symptoms with a qualified healthcare provider.