Charcot-Marie-Tooth disease


What is Charcot Marie Tooth syndrome?

Charcot Marie Tooth disorder, also known as CMT disease is a group of inherited disorders that affect nerves. The damage mostly involves peripheral nerves and affects arms and legs.

It is also referred to as Hereditary Motor and Sensory Neuropathy (HMSN).


Charcot-Marie-Tooth disease symptoms

CMT disease usually appears during adolescence or early adulthood, but can develop also later.

Its main signs and symptoms are:

  • muscle weakness in legs, ankle and feet
  • loss of feeling and decreased sensation in legs and feet
  • bone deformity


Charcot Marie Tooth disease Causes

CMT is an inherited condition depending on a genetic mutations that affects the nerves or sometimes myelin and axons.

CMT disease is mainly hereditary, but sometimes the gene mutation occur spontaneously.


CMT Diagnosis

Doctor examination is needed to check for patient’s family history and most common signs of CMT as described above.

To determine the exact cause of the symptoms and exclude other conditions the doctor may recommend tests, such as:

  • Electromyography (EMG)
  • X-ray of high arches
  • Nerve biopsy
  • Genetic testing


Treatment for Charcot-Marie-Tooth disease

There is no specific cure for CMT disease. However it is a condition that progresses slowly and there are some treatments to help manage its effects especially in the musculoskeletal system.

Non-surgical treatments include:

  • Orthopedic devices
  • Physical therapy
  • Occupational Therapy

CMT Surgery

The orthopedic surgeon may recommend surgery in case of severe foot deformities caused by CMT.


About Professor Portinaro

Prof. Portinaro is one of the most expert surgeons in foot reconstruction after major deformity occurs.

Prof. Portinaro has in general a wide experience and particular aptitude for neurological conditions.

He is indeed the founder and scientific director of a non-profit organization that supports families with children affected by neuromotor disabilities: Fondazione Ariel.

Prof. Portinaro and his team spend a large part of their work in international research projects to discover new treatments for childhood neuromotor disorders.

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