X-Linked Charcot-Marie Tooth Disease

What else is it called?

  • CMTX
  • X-linked hereditary motor and sensory neuropathy

Get in touch

Contact our caring team on 08452 412 173 for help and support. Our phone lines open 10am-4pm, Monday to Friday.

Prefer to email? Our email address is contact@metabolicsupportuk.org.

What causes it?

This condition is caused by mutations to a multitude of different genes. Most individuals who have this condition tend to have a GJBJ gene mutation. It is believed that the GJBJ gene has an Impact on axons. Axons are part of the nervous system and help to transmit signals through the nerves. As a result of the gene mutation, your nerves will start to lose their effectiveness. Research suggest that longer nerves which carry impulses to bring about motion are the most likely of the nerves to be affected by this condition.

How common is it?

It is said that this condition has impacted 150,000 individuals in the United States of America. Worldwide, it effects around 1 in every 3,300 people.

What are the signs and symptoms?

CMTX has been shown to be more common amongst males and symptoms expressed can range from mild to moderate. Most of the clinical symptoms tend to be displayed before the age of 10, however, the progression of symptoms is generally slow. Some of these symptoms are:

  • Muscle wasting
  • Sensory loss
  • Hearing loss
  • Weakness of limbs
  • Intellectual defects
  • Dysphagia
  • Ataxia

How is it diagnosed?

Diagnosis for CMTX is based off the presentation of symptoms and if you have a family history for this condition. Nerve condition studies [NCS] and DNA testing are also effective methods to diagnose this condition as the nervous system is affected with this condition.

Can it be treated?

Currently there is no cure for CMTX, treatment is usually aimed at managing the symptoms as they present. You may be referred to a physiotherapist that would help to treat the skeletal deformities that are often present with CMTX. Rehabilitation therapy and surgery for skeletal abnormalities are the current treatment options.

Do my family need to be tested?

Human X and Y chromosomes determine the biological sex of a person, with XX specifying female and XY specifying male

X-linked inheritance patterns differ depending on the type of inheritance. Recessive X linked conditions are always passed through the maternal line with the condition appearing in males and being carried in females, but not usually expressed. Whereas with dominant, one mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder

Males have a greater chance of receiving an X-linked inheritance due to the masking effect of the x gene, if you have two of these x genes as females do then the other X linked gene can mask the effects of the mutated one, whereas with males you only inherited one of these genes so there would be no masking effect.

Relevant Organisations

References

References are available on request. Please contact Helen Morris by phoning 0845 241 2173 or emailing helen@metabolicsupportuk.org [Resource Library No: AAP002].

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