Charcot Marie Tooth Disease (CMT) Causes, Symptoms, Diagnosis And Treatment

Charcot Marie Tooth Disease

What Is Charcot Marie Tooth Disease (CMT)?

Charcot Marie Tooth Disease is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.

Currently incurable, this disease is the most commonly inherited neurological disorder.

Causes Of CMT:

Charcot–Marie–Tooth disease is caused by mutations that cause defects in neuronal proteins.

  • The most common cause of CMT (70-80% of the cases) is the duplication of a large region on the short arm of chromosome 17that includes the gene
  • Some mutations affect the gene MFN2, which codes for a mitochondrial protein. Cells contain separate sets of genes in their nucleus and in their mitochondria

Being a hereditary disease, having family members who have it makes one at a higher risk of developing CMT themselves.

Symptoms Of CMT:

Common symptoms of CMT include:

  • Weakness in your legs, ankles and feet
  • Loss of muscle bulk in legs and feet
  • High foot arches
  • Curled toes (hammertoes)
  • Decreased ability to run
  • Difficulty lifting your foot at the ankle (footdrop)
  • Awkward or higher than normal step (gait)
  • Frequent tripping or falling
  • Decreased sensation or a loss of feeling in your legs and feet

Diagnosis Of CMT

The following tests and exams confirm the diagnosis of CMT:

  • Physical exam showing:
  • Signs of muscle weakness in your arms, legs, hands and feet
  • Decreased muscle bulk in your lower legs, resulting in an inverted champagne bottle appearance
  • Reduced reflexes
  • Sensory loss in your feet and hands
  • Foot deformities, such as high arches or hammertoes
  • Other orthopedic problems, such as mild scoliosis or hip dysplasia
  • Nerve conduction studies
  • Nerve biopsy
  • EMG
  • Genetic testing

Treatment Of CMT:

The following treatment options are available:

  • Medications
  • Therapy
  • Physical therapy
  • Occupational therapy
  • Orthopedic device
  • Surgery

By : Natural Health News