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

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