Charcot-Marie-Tooth Type 1A

Comprehensive details on Charcot Marie Tooth Type 1A

CMT Type 1A

Charcot-Marie-Tooth Type 1A is a hereditary nerve disorder causing muscle weakness and sensory loss, primarily in the limbs.

Close-up illustration of peripheral nerves affected by Charcot-Marie-Tooth Type 1A.
Close-up illustration of peripheral nerves affected by Charcot-Marie-Tooth Type 1A.
Symptoms
Causes

Symptoms often include foot drop, muscle wasting, and difficulty walking, while the cause is a genetic duplication affecting myelin sheath.

FAQs

What is CMT1A?

CMT1A is a genetic disorder affecting peripheral nerves, causing muscle weakness.

What causes it?
What are the symptoms?
How is it diagnosed?
Is there a treatment?

It’s caused by a duplication of the PMP22 gene on chromosome 17.

Symptoms include foot drop, muscle wasting, numbness, and difficulty walking, often starting in childhood.

Diagnosis involves genetic testing, nerve conduction studies, and clinical evaluation.

No cure exists, but physical therapy and supportive care help manage symptoms.

Gallery

Visual insights into Charcot-Marie-Tooth type 1A

Microscopic view of nerve fibers showing demyelination in CMT1A
Microscopic view of nerve fibers showing demyelination in CMT1A
Illustration of genetic mutation causing CMT1A on chromosome 17
Illustration of genetic mutation causing CMT1A on chromosome 17
Photo of muscle wasting in foot due to Charcot-Marie-Tooth disease
Photo of muscle wasting in foot due to Charcot-Marie-Tooth disease
Diagram showing nerve conduction study results typical for CMT1A
Diagram showing nerve conduction study results typical for CMT1A
Clinical image of a patient with high arches and hammer toes from CMT1A
Clinical image of a patient with high arches and hammer toes from CMT1A
Genetic testing process highlighting PMP22 duplication detection
Genetic testing process highlighting PMP22 duplication detection