Living with Charcot-Marie-Tooth disease recessive intermediate C
A rare inherited nerve condition with weakness, foot differences, and loss of feeling, starting anytime from childhood to adulthood.
Understanding Charcot-Marie-Tooth disease recessive intermediate C
It causes moderate to severe, slowly worsening weakness and wasting mostly in the lower legs, foot differences such as high arches and hammertoes, absent reflexes, and loss of feeling. It can start at any time from childhood on.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wasting of muscles in the hands and feet
- Absent tendon reflexes
- Loss of feeling in the hands and feet
- High-arched feet (pes cavus)
- Hammertoes
- High-stepping walk and scoliosis
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 PLEKHG5 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
Changes in the PLEKHG5 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive intermediate charcot-marie-tooth disease type c; charcot-marie-tooth disease caused by mutation in plekhg5; charcot-marie-tooth disease recessive intermediate type c; charcot-marie-tooth disease, recessive intermediate type c; charcot-marie-tooth neuropathy, recessive intermediate c; cmtric
Patient organizations
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease recessive intermediate C · 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 C.
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