Living with Charcot-Marie-Tooth disease axonal type 2P
An inherited nerve condition that causes loss of feeling in the feet and legs and, later, weakness.
Understanding Charcot-Marie-Tooth disease axonal type 2P
People may have mild loss of feeling in the fingertips and severe loss in the feet and legs, most often for vibration. Muscle twitches and cramps may occur in younger people, and muscle weakness and wasting in the legs, feet, and hands in older people. It usually begins in the teen years or adulthood.
Signs & symptoms
GARD doesn't list common symptoms for this condition. Its summary describes these features:
- Loss of feeling in the feet and legs
- Mild loss of feeling in the fingertips
- Muscle twitches (fasciculations)
- Muscle cramps in younger people
- Weakness and wasting in the legs, feet, and hands in older people
- Hammertoes
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 LRSAM1 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 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: Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association, 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 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 LRSAM1 gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: autosomal dominant charcot-marie-tooth disease type 2g; charcot-marie-tooth disease caused by mutation in lrsam1; charcot-marie-tooth disease type 2p; charcot-marie-tooth disease, axonal, type 2g; charcot-marie-tooth disease, axonal, type 2p; charcot-marie-tooth neuropathy type 2g
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease axonal type 2P · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease axonal type 2P · United States
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2P · 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 axonal type 2P.
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