Charcot-Marie-Tooth disease type 1 (CMT1) is a genetic neurological disorder that affects the peripheral nerves, which are responsible for controlling movement and sensation in the arms, legs, hands, and feet. CMT1 is caused by mutations in one of several genes that are involved in the production or maintenance of the myelin sheath, which is the fatty coating that surrounds and insulates nerve fibers.

As a result of the myelin damage, people with CMT1 experience muscle weakness and wasting, sensory loss, and difficulty with coordination and balance. These symptoms typically begin in the feet and legs and progress upward over time, eventually affecting the hands and arms as well. CMT1 is a progressive condition, which means that symptoms tend to worsen over time.

The diagnosis of Charcot-Marie-Tooth disease type 1 (CMT1) usually involves a combination of clinical examination, genetic testing, nerve conduction studies, and electromyography (EMG).

During a clinical examination, a doctor will evaluate the patient's symptoms and medical history, perform a physical examination, and assess the patient's reflexes, muscle strength, and coordination. The doctor may also order nerve conduction studies and EMG to evaluate the function of the patient's peripheral nerves and muscles.

Genetic testing can confirm the diagnosis of CMT1 and identify the specific gene mutation responsible for the condition. This information can help guide treatment and provide insight into the patient's prognosis and potential risk for passing the condition on to their children.

In some cases, a muscle or nerve biopsy may also be performed to examine the tissue under a microscope and evaluate the extent of myelin damage and axon loss.

Procedure for Charcot-Marie-Tooth disease 1 Test

Blood sample for genetic testing to identify any mutations in the genes associated with CMT1.

In some cases, a muscle or nerve biopsy may also be required to confirm the diagnosis of CMT1. During a muscle biopsy, a small piece of muscle tissue is removed and examined under a microscope to evaluate the extent of myelin damage and axon loss. A nerve biopsy involves removing a small section of nerve tissue and examining it under a microscope to evaluate the structure and function of the nerve fibers

Cost of Charcot-Marie-Tooth disease 1 Test

The cost of the Charcot-Marie-Tooth disease 1 Test near me in Delhi ranges from INR 20000 to INR 30000