Living with Charcot-Marie-Tooth disease type 5
A rare inherited nerve condition with weakness in the hands and feet, walking trouble, and sometimes muscle stiffness.
Understanding Charcot-Marie-Tooth disease type 5
It affects the muscles farthest from the center of the body, with or without loss of feeling. People have trouble walking, foot drop, and high foot arches. It may include signs from nerve pathways in the brain, such as mild stiffness and brisk reflexes, along with cramps, pain, and spasticity. It usually starts in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the hands and feet
- Trouble walking
- Foot drop
- High foot arches (pes cavus)
- Muscle cramps and pain
- Muscle stiffness and spasms
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 MFN2 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
Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association and Muscular Dystrophy Association 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: Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association, Muscular Dystrophy Association
- 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 Hereditary Neuropathy Foundation Inc. 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 MFN2 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: charcot-marie-tooth disease with pyramidal features, autosomal dominant; charcot-marie-tooth disease-pyramidal features syndrome; charcot-marie-tooth disease, pyramidal features syndrome; charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant; cmt with pyramidal features; hereditary motor and sensory neuropathy 5
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 5 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 5 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 5 · 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 5.
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