Living with Charcot-Marie-Tooth disease type 1F
An inherited nerve condition caused by NEFL gene changes, ranging from severe in childhood to mild in adulthood.
Understanding Charcot-Marie-Tooth disease type 1F
It ranges from severe impairment starting in childhood to mild impairment appearing in adulthood. Nerves for movement and feeling worsen over time, with weakness in the lower legs that may be mild or may cause complete weakness of muscles farthest from the center of the body. Reflexes are absent and nerve signals are slowed. It usually starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Wasting of lower leg muscles
- Absent tendon reflexes
- Nerve damage affecting movement and feeling
- Hand differences
- Fewer large insulated nerve fibers
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
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 NEFL 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 nefl; charcot-marie-tooth disease type if; charcot-marie-tooth disease, demyelinating, type 1f; charcot-marie-tooth disease, type 1f; charcot-marie-tooth neuropathy type 1f; charcot-marie-tooth neuropathy type 1f/2e
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 1F · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 1F · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 1F · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 1F · 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 1F.
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