C is for Charcot Marie Tooth disease

April 21, 2013

Charcot Marie Tooth disease is a condition that starts in kids and in most cases lead to a cavus or higher arched foot.

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), is a group of inherited neurological disorders that affect the peripheral nerves. It is one of the most common inherited neurological disorders, with various subtypes and genetic mutations associated with it.

Symptoms: The primary features of Charcot-Marie-Tooth disease include:
Progressive muscle weakness: Typically affecting the distal muscles of the lower limbs (legs and feet) initially, but it can also involve the hands and arms as the disease progresses.
Sensory disturbances: Patients may experience reduced sensation, such as numbness, tingling, or loss of feeling in the affected areas.
Foot deformities: High arches (pes cavus) or flat feet may develop due to muscle imbalances.
Muscle wasting: Over time, muscle atrophy can occur, leading to a decrease in muscle bulk.

Genetic Inheritance: Charcot-Marie-Tooth disease is primarily caused by genetic mutations. It can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific subtype and gene involved. Genetic testing can help identify the specific genetic mutation associated with an individual’s CMT.

Subtypes: There are multiple subtypes of Charcot-Marie-Tooth disease, including CMT1, CMT2, CMTX, and others. Each subtype is associated with specific genetic mutations and has distinct clinical features and disease progression.

Diagnosis: Diagnosis of Charcot-Marie-Tooth disease involves a combination of clinical evaluation, medical history, physical examination, and genetic testing. Nerve conduction studies and electromyography (EMG) can help assess nerve and muscle function and aid in the diagnosis.

Treatment: Currently, there is no cure for Charcot-Marie-Tooth disease, and treatment focuses on managing symptoms and improving quality of life. Treatment options may include:
Physical therapy: Exercises and stretching programs to improve muscle strength, mobility, and balance.
Orthotic devices: Customized braces, splints, or orthopedic footwear to support foot and ankle alignment and improve walking.
Pain management: Medications may be prescribed to alleviate pain or manage other associated symptoms.
Surgical interventions: In some cases, surgical procedures may be considered to correct foot deformities or release tight tendons.

Prognosis: The progression and severity of Charcot-Marie-Tooth disease can vary widely between individuals and subtypes. In most cases, the disease progresses slowly over time, but the rate of progression and specific symptoms can differ. With appropriate management and support, many individuals with Charcot-Marie-Tooth disease can maintain functional independence and lead fulfilling lives.


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