Living with MME-related autosomal dominant Charcot Marie Tooth disease type 2
A rare inherited nerve condition that causes slowly worsening weakness and numbness, starting in the legs in adulthood.
Understanding MME-related autosomal dominant Charcot Marie Tooth disease type 2
It begins in adulthood with slowly worsening weakness and wasting in the muscles far from the center of the body, reduced feeling, and weak reflexes. These start in the lower legs. Walking can become harder, and in some people independent walking may be lost at an older age.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Slowly worsening weakness in the lower legs and feet
- Muscle wasting
- Reduced feeling (sensory impairment)
- Weak reflexes
- Changes in how a person walks
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, cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MME 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); Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 The Foundation for Peripheral Neuropathy 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
This condition is caused by changes in the MME gene. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: membrane metalloendopeptidase related autosomal dominant charcot marie tooth disease type 2; mme-related autosomal dominant cmt2; mme-related autosomal dominant hereditary motor and sensory neuropathy type 2
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with MME-related autosomal dominant Charcot Marie Tooth disease type 2.
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