Living with Charcot-Marie-Tooth disease type 4F
An inherited nerve condition starting in childhood with slowly worsening weakness, high foot arches, and severe loss of feeling.
Understanding Charcot-Marie-Tooth disease type 4F
It starts in childhood with slowly worsening weakness and wasting in the muscles farthest from the center of the body, and high foot arches. People have severe loss of feeling, often with balance trouble from that loss (sensory ataxia). Nerve signals are slowed, and motor milestones are delayed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness and wasting in the hands and feet
- High foot arches (pes cavus)
- Severe loss of feeling
- Balance trouble from loss of feeling
- Curved spine (scoliosis)
- Delayed motor skills
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 PRX 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); 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 PRX 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: charcot-marie-tooth disease type 4 caused by mutation in prx; charcot-marie-tooth disease, demyelinating, type 4f; charcot-marie-tooth disease, type 4f; charcot-marie-tooth neuropathy type 4f; cmt4f; prx charcot-marie-tooth disease type 4
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease type 4F · 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 type 4F.
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