Living with Charcot-Marie-Tooth disease type 1C
A rare inherited nerve condition that can cause weakness and numbness, or a milder form with mostly tingling and numbness.
Understanding Charcot-Marie-Tooth disease type 1C
It may look like classic Charcot-Marie-Tooth disease, with weakness and wasting in the hands and feet, trouble walking, tingling, and less feeling of vibration and pain. Or it may be milder and mostly sensory, with tingling, less feeling, and pain without much weakness. High foot arches are common. It starts anywhere from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tingling or pins and needles (paresthesia)
- Numbness
- High-arched feet (pes cavus)
- Trouble with coordination when walking
- Nerve damage affecting feeling and movement
- Hand tremor
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 LITAF 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 LITAF 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 litaf; charcot-marie-tooth disease, demyelinating, type 1c; charcot-marie-tooth disease, type 1c; charcot-marie-tooth disease, type ic; charcot-marie-tooth neuropathy type 1c; charcot-marie-tooth neuropathy, type 1c
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 1C · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 1C · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 1C · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 1C · 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 1C.
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