Living with Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
A rare form of Charcot-Marie-Tooth disease marked by burning, aching, or shooting pain in the feet and ankles.
Understanding Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Pain is described as burning, aching, shooting, or throbbing, with intermittent tingling in the toes, heels, and ankles. Feeling loss in the lower legs is mild, and muscle weakness is mild or absent. It can begin at any time in life.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Burning, aching, shooting, or throbbing nerve pain
- Tingling in toes, heels, and ankles
- Mild loss of feeling in the lower legs
- Mild or no muscle weakness
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 and genetic specialists.
- 3Consider genetic testing
Changes in MPZ 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
Charcot-Marie-Tooth Association and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Charcot-Marie-Tooth Association, 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 Charcot-Marie-Tooth Association 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
GARD says changes in the MPZ gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant intermediate cmt disease with neuropathic pain
Patient organizations
- Charcot-Marie-Tooth AssociationAutosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain · 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 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain.
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