Living with Charcot-Marie-Tooth disease recessive intermediate D
A rare inherited nerve condition starting in childhood with unsteady walking, high foot arches, and slowly worsening weakness.
Understanding Charcot-Marie-Tooth disease recessive intermediate D
Early signs are unsteady walking, high foot arches, frequent falls, and weakness lifting the foot. Over time weakness and wasting slowly spread to the hands and lower legs, with loss of feeling and reduced reflexes. Some people also have hearing loss from nerve damage and nerve pain.
Signs & symptoms
GARD doesn't list common symptoms for this condition. Its summary describes these features:
- Unsteady walking
- High-arched feet (pes cavus)
- Frequent falls
- Weakness lifting the foot
- Weakness and wasting in the hands and legs
- Loss of feeling in the hands and feet
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 COX6A1 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, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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
Changes in the COX6A1 gene cause this condition. GARD lists it as autosomal recessive, so a child inherits a changed copy of the gene from each parent, and also as mitochondrial.
Also known as: autosomal recessive intermediate charcot-marie-tooth disease type d; charcot-marie-tooth disease caused by mutation in cox6a1; charcot-marie-tooth disease recessive intermediate type d; charcot-marie-tooth disease, recessive intermediate type d; cmtrid; cox6a1 charcot-marie-tooth disease
Patient organizations
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease recessive intermediate D · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · 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 recessive intermediate D.
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