Living with Charcot-Marie-Tooth disease, type IA
An inherited nerve condition that causes weakness in the lower legs starting in the teen years, later reaching the hands.
Understanding Charcot-Marie-Tooth disease, type IA
People have weakness and wasting of the lower leg muscles beginning in the teen years. Later they can also have hand weakness and loss of feeling. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble walking
- Reduced reflexes
- Loss of feeling in the hands and feet
- High foot arches (pes cavus)
- Wasting of muscles
- Weakness closer to the center of the body
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 PMP22 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
An extra copy (a duplication) of the PMP22 gene causes CMT1A. 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 with focally folded myelin sheaths type 1a; charcot-marie-tooth disease type 1a; charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a; charcot-marie-tooth disease, demyelinating, type 1a; charcot-marie-tooth disease, type 1a; charcot-marie-tooth neuropathy type 1a
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease, type IA · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease, type IA · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease, type IA · United States
- CMT Research FoundationCharcot-Marie-Tooth disease, type IA · United States
- Chromosome Disorder OutreachChromosome disorders · 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 IA.
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