Living with Charcot-Marie-Tooth disease type 4C
A relatively mild inherited nerve condition with early spine curvature and foot differences, starting in childhood.
Understanding Charcot-Marie-Tooth disease type 4C
A key feature is early spine curvature. Most people have scoliosis (sideways curve) or kyphoscoliosis during the first decade of life. Nerve problems slowly worsen in childhood or the teen years. Foot differences are common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Curved spine (scoliosis)
- Foot differences
- Foot drop
- Frequent falls
- Absent tendon reflexes
- Wasting of muscles 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 SH3TC2 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 SH3TC2 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: autosomal recessive demyelinating charcot-marie-tooth disease type 4c; charcot-marie-tooth disease type 4 caused by mutation in sh3tc2; charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4c; charcot-marie-tooth disease, demyelinating, type 4c; charcot-marie-tooth neuropathy type 4c; charcot-marie-tooth neuropathy type 4c (cmt4c)
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 4C · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4C · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 4C · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4C · 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 4C.
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