Living with Charcot-Marie-Tooth disease type 2B5
A rare inherited nerve condition starting in infancy with slowly worsening weakness, low muscle tone, and loss of feeling.
Understanding Charcot-Marie-Tooth disease type 2B5
It causes slowly worsening weakness and wasting in the muscles farthest from the center of the body, worse in the legs and moderate in the arms. People have mildly delayed motor skills, low muscle tone, and loss of all types of sensation in the hands and feet.
Signs & symptoms
GARD doesn't list common symptoms for this condition. Its summary describes these features:
- Weakness in the hands and feet
- Wasting of muscles, worse in the legs
- Mildly delayed motor skills
- Low muscle tone (hypotonia)
- Loss of feeling in the hands and feet
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 NEFL 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 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
Changes in the NEFL gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: ar-cmt2b5; autosomal recessive charcot-marie-tooth disease type 2b5; seoan due to nefl deficiency; severe early-onset axonal neuropathy due to light neurofilament subunit deficiency; severe early-onset axonal neuropathy due to nefl (neurofilament light) deficiency; severe early-onset axonal neuropathy due to nefl deficiency
Patient organizations
- 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 2B5.
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