Living with Charcot-Marie-Tooth disease type 1D
An inherited nerve condition caused by EGR2 gene changes, with weakness in the hands and feet that varies in age of onset.
Understanding Charcot-Marie-Tooth disease type 1D
Severity and age of onset vary, from infancy to adulthood. It usually causes walking problems and slowly worsening weakness and wasting in the muscles farthest from the center of the body, which can spread later to muscles closer in. Foot differences are common. Some people have scoliosis, double vision, or weak vocal cords.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Foot drop
- Weakness in the hands and feet
- Wasting of muscles in the hands and feet
- Weakness in the arms
- High-stepping walk (steppage gait)
- Nerve damage (peripheral 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 EGR2 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 EGR2 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 type 1 caused by mutation in egr2; charcot-marie-tooth disease type id; charcot-marie-tooth disease, demyelinating, type 1d; charcot-marie-tooth disease, type 1d; charcot-marie-tooth neuropathy type 1d; charcot-marie-tooth neuropathy, type 1d
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 1D · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 1D · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 1D · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 1D · 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 1D.
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