Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.
Also known as: CMT1X, CMT2, CMT2, formerly, CMTX, CMTX 1, CMTX1, Charcot Marie Tooth disease X-linked 1, Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant type 1, Charcot-Marie-Tooth disease type X caused by mutation in GJB1.
Category: General
Symptoms associated with Charcot-Marie-Tooth disease X-linked dominant 1
The following symptoms have been associated with Charcot-Marie-Tooth disease X-linked dominant 1 in medical literature. Not everyone experiences the same symptoms.
Distal lower limb muscle weakness
Reduced strength of the distal musculature of the legs....
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Dysphagia
Difficulty in swallowing....
Hand muscle weakness
Reduced strength of the musculature of the hand....
Hand tremor
An unintentional, oscillating to-and-fro muscle movement affecting the hand....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate Charcot-Marie-Tooth disease X-linked dominant 1
Healthcare providers may order these tests when evaluating Charcot-Marie-Tooth disease X-linked dominant 1. 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 X-linked dominant 1, which is why a clinical evaluation is important.
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 is a medical condition that may be associated with var...
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...
amyotrophic lateral sclerosis type 21
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene....
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 1 is a medical condition that may be associated with various symptoms and signs....
Frequently Asked Questions
What is Charcot-Marie-Tooth disease X-linked dominant 1?
Charcot-Marie-Tooth disease X-linked dominant 1 is a health condition described in medical literature. Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.
What are the symptoms of Charcot-Marie-Tooth disease X-linked dominant 1?
Charcot-Marie-Tooth disease X-linked dominant 1 is associated with 7 symptoms in the medical literature we index, including Distal lower limb muscle weakness, Distal muscle weakness, Dysphagia, Hand muscle weakness, Hand tremor, Sensorineural hearing impairment. Symptoms vary widely between individuals.
How is Charcot-Marie-Tooth disease X-linked dominant 1 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 X-linked dominant 1 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 X-linked dominant 1, please discuss your symptoms with a qualified healthcare provider.