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What is Charcot-Marie-Tooth (CMT) Disease?

Sep 01st, 2023 | by Felicity Ginis

Felicity Ginis

September 01st, 2023

What is Charcot-Marie-Tooth (CMT) Disease?

CMT refers to a group of disorders that primarily affect an individual’s physical function and touch sensation. This occurs due to abnormalities in their motor and/or sensory peripheral nerves, which send electrical signals from their brain and spinal cord to their limbs. This results in muscle weakness and atrophy (wasting) as well as sensory impairments. Prevalence rates of CMT range from 9 to 28 per 100,000 worldwide. The subdivisions of this disease include:

  • CMT1: demyelinating autosomal dominant
  • CMT2: axonal, autosomal dominant
  • CMT4: recessive
  • CMTX: X linked
  • CMTDI: dominant intermediate
  • CMTRI: recessive intermediate

CMT1 is the most common form of CMT and is characterized by the deterioration in nerve myelin (insulation). This results in reduced electrical signal transmission speeds of the peripheral nerves.

What Causes CMT?

CMT is a genetic condition caused by genes that have abnormal changes affecting their function. Genetic diseases are caused by changes in a single gene or in a combination of genes, that are on the chromosomes inherited from the father and/or the mother. There are now over 100 genes that are known to be responsible for various forms of CMT. However, in around 40% of cases of CMT, no specific responsible gene can be identified.

What Are Some Signs and Symptoms of CMT?

Common early signs and symptoms can include:

  • Decreased sensitivity to heat, touch or pain
  • Muscle weakness (usually beginning in the lower legs and later presenting in the hands)
  • Loss of muscle mass in the lower leg
  • Difficulty with fine motor skills
  • High-stepped gait (foot drop)
  • Frequent tripping or falling
  • High foot arch and flat feet
  • Hammertoe (a bend in the middle joint of a toe)

Symptoms of CMT disease often develop gradually in adolescence. Generally, those affected by the disease may remain active for years after symptom onset and live a normal life expectancy.

What Are Some Treatment Options for CMT?

Whilst the progression of the disease cannot be reversed, it is possible to reduce the effects of the symptoms with treatment. Physiotherapy treatment plays an important role in maintaining muscle strength and function. Similarly, occupational therapy may be beneficial in addressing difficulties with fine motor skills and maintaining an individual’s ability to participate in activities of daily living. These professions may also recommend equipment such Ankle Foot Orthoses (AFOs), gait aids or wheelchairs to promote the continued independence of individuals with this condition. Additionally, in more severe cases, surgery may be required to correct deformities and improve alignment. Furthermore, there are a range of complementary therapies available that may assist individuals cope psychologically, assist with pain relief, and improve their overall quality of life.

About the Author

Felicity is extremely passionate about her work as a physiotherapist and strives to support children in reaching their greatest potential. When Felicity isn’t at NAPA, she enjoys spending time at the beach and keeping active, whether that be playing soccer or going for jogs around the park (making sure to pat every dog that she passes).

About NAPA Centre

In this blog, we discuss causes, characteristics, therapy and treatment options for Down syndrome.At NAPA Centre, we take an individualised approach to therapy because we understand that each child is unique with very specific needs. We embrace differences with an understanding that individualised programs work better. For this reason, no two therapeutic programs are alike. If your child needs our services, we will work closely with you to select the best therapies for them, creating a customised program specific to your child’s needs and your family’s goals. Let your child’s journey begin today by contacting us to learn more.

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