Living with Charcot-Marie-Tooth disease type 2A1
An inherited nerve condition starting in childhood that causes weakness in the arms and legs, usually worse in the legs.
Understanding Charcot-Marie-Tooth disease type 2A1
It causes weakness in the arms and legs, usually worse in the legs. There may also be shaking when standing or sitting. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the legs and arms
- Wasting of muscles in the hands and feet
- Absent tendon reflexes
- Facial palsy (Bell's palsy)
- Shaking when standing or sitting
- Nerve damage (peripheral axonal neuropathy)
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 KIF1B 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 KIF1B 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: autosomal dominant charcot-marie-tooth disease axonal type 2a1; autosomal dominant charcot-marie-tooth disease type 2a1; charcot-marie-tooth disease neuronal type 2a1; charcot-marie-tooth disease type 2 caused by mutation in kif1b; charcot-marie-tooth disease type 2a; charcot-marie-tooth disease, axonal, autosomal dominant, type 2a1
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 2A1 · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 2A1 · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 2A1 · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 2A1 · 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 2A1.
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