Medical condition
X-linked Charcot–Marie–Tooth disease is a group of genetic disorders and a type of Charcot–Marie–Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms.
Signs and symptoms.
Symptoms vary between subtypes, but generally they can be condensed into a basic summary: individuals with this condition have symptoms that, once present, progress over time (severity increases over time), these include: muscle weakness and atrophy of the distal extremities (mostly involving feet, legs, and the thenar eminence of the hands), loss of sensation of the distal limbs, loss of reflexes of the deep tendon, high-arched feet, and (less commonly) scoliosis.
Symptoms that are less frequent among X-linked CMT disease patients include dysfunctions of the transient central nervous system which are associated with dysphagia, dysarthria, ataxia, generalized body weakness, aphasia, and somnolence.
Severe cases might exhibit proximal muscle weakness.
Complications.
There are various complications associated with this condition, they are associated with the symptoms.
One example is the localized loss of sensation characteristic of this condition which also takes temperature sensation with it, this might be dangerous due to the fact that someone might accidentally injure themselves not knowing something is hot.
Types.
Although this condition is a type of Charcot–Marie–Tooth disease in on itself, it also has various subtypes with different symptoms, the following list comprises the 6 types of X-linked CMT:
Genetics.
This condition's causative X-chromosome gene depends on what subtype of CMTX one has, they are generally the following:
Diagnosis.
This condition can be diagnosed through nerve biopsy, muscle biopsy, whole genome sequencing, alongside examination of symptoms exhibited by the patient.
Treatment.
Although Charcot–Marie–Tooth disease has no cure, it can be treated and managed by doing the following:
Treatment for physical deformities includes:
Prognosis.
Because of its X-linked nature, males with the condition tend to exhibit symptoms that are more severe than their female counterparts, who generally show very mild to no symptoms at all.
Prevalence.
Overall, it is estimated that 10-15% of all cases of Charcot–Marie–Tooth disease come from X-linked Charcot–Marie–Tooth disease. It is the second most common type of Charcot–Marie–Tooth disease.
According to OrphaNet, 1 out of every 100,000 people are affected by CMTX.
The following information comes from the OMIM pages for the 6 subtypes of CMTX
References.
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