What are the symptoms of Charcot-Marie-Tooth disease?

The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.)  A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an “inverted champagne bottle” appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).

Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.

Affected Population:

PKAN affects one in 1 million people and is caused by genetic defects.

Genetics

PKAN is inherited and is called an autosomal recessive disorder.

Contact these non-profit organizations to learn more about CMT:

Charcot-Marie-Tooth Association

Hereditary Neuropathy Foundation

Facebook Groups

Charcot Marie Tooth Mexico

Charcot-Marie-Tooth Association

Charcot-Marie-Tooth Disease

Retrophin PKAN Study Update

Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study

Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration

Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management (2015)

Neurodegeneration with Brain Iron Accumulation Disorders Overview (2014)

Related Terms:

Eye of the Tiger

MRI

Iron accumulation

NBIA Disorders

National Organization for Rare Disorders – PKAN