Living with Autosomal dominant Charcot-Marie-Tooth disease type 2M
A rare inherited nerve condition with weakness in the feet and legs and drooping eyelids and early cataracts at birth.
Understanding Autosomal dominant Charcot-Marie-Tooth disease type 2M
It includes drooping eyelids and early cataracts present from birth, plus a mildly worsening nerve condition (peripheral neuropathy) that can start anywhere from birth to the 6th decade. Other features are high-arched feet, reduced or missing ankle reflexes, and sometimes low neutrophil counts.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Drooping eyelids from birth
- Early cataracts
- Mild nerve damage in the limbs (peripheral neuropathy)
- High-arched feet
- Reduced or absent ankle reflexes
- Sometimes low white blood cell counts (neutropenia)
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 DNM2 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); Genetic specialists (geneticists)
- 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 CMT Research Foundation 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
GARD says changes in the DNM2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: charcot-marie-tooth disease, axonal, autosomal dominant, type 2m; charcot-marie-tooth disease, axonal, type 2m; charcot-marie-tooth disease, type 2m; charcot-marie-tooth neuropathy, axonal, type 2m; cmt2m
Patient organizations
- CMT Research FoundationAutosomal dominant Charcot-Marie-Tooth disease type 2M · 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 Autosomal dominant Charcot-Marie-Tooth disease type 2M.
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