Genetic diseases: Charcot-Marie-Tooth syndrome

Definition

In our post today on genetic diseases, we'll discuss Charcot-Marie-Tooth disease. It's a group of genetic nerve disorders that cause nerve damage, especially in the arms and legs, resulting in smaller and weaker muscles. It's also called peroneal muscular atrophy and hereditary motor and sensory neuropathy.

Causes

The disease occurs when there are mutations in genes that affect the nerves in the feet, legs, hands, and arms. These are peripheral nerves that carry movement and sensation signals between the brain, spinal cord, and the rest of the body, resulting in weaker messages between the limbs and the brain.

Genetics of the disease

Genetically, the syndrome is a group of demyelinating peripheral neuropathies that appear due to defects in at least 40 genes that cause the different types of the disease. Most are inherited and are autosomal dominant, meaning only one gene from one parent is required for the disease to develop, although some types can be inherited as a recessive trait (requiring two genes, one from each parent).

Symptoms

Charcot-Marie-Tooth disease is the most common inherited neuropathy, and symptoms usually begin in adolescence, primarily causing weakness and numbness in the feet and hands, as the nerves in the legs and arms are most commonly affected by CMT. The most common symptoms are foot deformity, inability to hold the foot horizontally, loss of muscle tone in the legs, and balance problems.

Diagnosis

Diagnosis is initially made through the patient's medical history and family history of the disease. An electromyogram may be performed, which will assess the functioning of the nerves that supply a particular muscle. Genetic testing can also provide the exact cause for most people with CMT. analyzing DNA of the child to determine if he or she has known mutations of the disease. In www.genotica.com We have tests that study this disease and its related mutations, such as NGS-SEQ+CNVs – HEREDITARY NEUROPATHIES from Lorgen.

Treatment

Currently, there is no cure for this disease, and doctors often recommend physical activity, as it can help maintain muscle strength and improve independent functioning, although there are no known treatments that halt or slow the progression of the disease.