What it is
Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nerves. Type 1A, the most common form, is caused by an extra copy of the PMP22 gene and damages the insulating layer around nerves.
Signs and symptoms
Pes cavus
A high-arched foot (pes cavus) is a common feature and can become rigid enough to need surgery.
Hammertoe
Hammer toes, where the toes curl downward, often occur alongside the high-arched foot.
Peripheral neuropathy
The condition is a peripheral neuropathy: it affects the nerves serving the limbs, leading to weakness and reduced sensation in the feet and hands.
Steppage gait
Weak ankle muscles cause a high-steppage gait, lifting the foot unusually high to avoid dragging the toes.
Hyporeflexia
Reflexes are reduced or absent, which a clinician can detect on examination.
Treatment and management
No disease-modifying treatment is established for this condition in the research mapped here. This is a stated, reviewed fact, not a missing piece of this guide.
That does not mean nothing can be done. Supportive and symptomatic care, managing specific symptoms and complications as they arise, can still matter a great deal. What is right for any individual is a conversation for their own care team.
Turn this into questions for your doctor
The hardest part is often knowing what to ask. PatientLead Health helps families turn what is on this page into the right questions for their care team.
How to read the evidence labels
Where this comes from
This guide is built from 1 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.