X-Linked Charcot-Marie Tooth Disease

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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.

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.

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

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.

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.

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.

References are available on request. Please contact us on 0800 652 3181 or by emailing contact@metabolicsupport.org.

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This information about metabolic diseases is provided by Metabolic Support UK and is intended for educational purposes only. It should not be used for diagnostic or treatment purposes.

Should you require more detailed information please contact Metabolic Support UK by email (contact@metabolicsupport.org) or by telephone ( 0800 652 3181). For specific medical information regarding a disorder or individual please contact your GP or Paediatrician. Metabolic Support UK accepts no responsibility for any errors or omissions nor does Metabolic Support UK assume any liability of any kind for the content of any information contained within this summary or any use that you may make of it.