Living with Charcot-Marie-Tooth disease type 4K
An inherited nerve condition starting in childhood with severe nerve damage and high lactic acid levels.
Understanding Charcot-Marie-Tooth disease type 4K
It causes weakness and wasting in the hands and feet, loss of feeling in the legs, high lactic acid in the blood (lactic acidosis), absent reflexes, and very slow nerve signals. Some people also have curved spine, eye shaking, hearing loss, balance trouble from the cerebellum, or brain MRI changes.
Signs & symptoms
GARD doesn't list common symptoms for this condition. Its summary describes these features:
- Weakness and wasting in the hands and feet
- Loss of feeling in the legs
- High lactic acid in the blood
- Absent reflexes
- Curved spine (kyphoscoliosis)
- Eye shaking and hearing loss in some people
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 SURF1 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
Charcot-Marie-Tooth Association, United Mitochondrial Disease Foundation and MitoAction 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: Charcot-Marie-Tooth Association, United Mitochondrial Disease Foundation, MitoAction
- 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 Charcot-Marie-Tooth Association 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 SURF1 gene cause this condition. GARD lists it as autosomal recessive, so a child inherits a changed copy of the gene from each parent, and also as mitochondrial.
Also known as: autosomal recessive demyelinating charcot-marie-tooth disease type 4k; autosomal recessive demyelinating charcot-marie-tooth neuropathy type 4k; charcot-marie-tooth disease type 4 caused by mutation in surf1; charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k; charcot-marie-tooth disease, demyelinating, type 4k; charcot-marie-tooth disease, type 4k
Patient organizations
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4K · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4K · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · 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 4K.
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