Living with Charcot-Marie-Tooth disease X-linked dominant 6
A rare inherited nerve condition starting in childhood, with weakness in the lower legs and foot differences, usually milder in females.
Understanding Charcot-Marie-Tooth disease X-linked dominant 6
It begins in childhood with moderate to severe, slowly worsening weakness and wasting of the lower legs, loss of feeling, foot differences such as high arches and clawed toes, absent ankle reflexes, and a high-stepping walk. Females usually have no symptoms or only mild ones, such as mild hand tremor.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness and wasting in the lower legs
- High-stepping walk (steppage gait)
- Absent ankle reflexes
- High foot arches (pes cavus)
- Loss of feeling in the feet
- Hand tremor
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in PDK3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CMT Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PDK3 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: charcot-marie-tooth disease x-linked dominant type 6; charcot-marie-tooth disease, x-linked dominant, 6, x-linked dominant; charcot-marie-tooth disease, x-linked dominant, type 6; charcot-marie-tooth neuropathy x-linked dominant 6; charcot-marie-tooth neuropathy, x-linked dominant, 6; cmt6x
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease X-linked dominant 6 · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Charcot-Marie-Tooth disease X-linked dominant 6.
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