Living with Charcot-Marie-Tooth disease type 4G
An inherited nerve condition starting in early childhood, described in Balkan Roma communities, with weakness and foot and hand differences.
Understanding Charcot-Marie-Tooth disease type 4G
It causes slowly worsening weakness and wasting in the muscles farthest from the center of the body, delayed motor skills, prominent loss of feeling, absent reflexes, and foot and hand differences. GARD says it has been described in Balkan (Russe) Gypsies.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Absent tendon reflexes
- Loss of feeling in the hands and feet
- Foot differences, including clubfeet
- Hand differences
- Trouble walking
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 HK1 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 HK1 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 charcot-marie-tooth disease type 4g; charcot-marie-tooth disease type 4 caused by mutation in hk1; charcot-marie-tooth disease, demyelinating, type 4g; charcot-marie-tooth neuropathy type 4g; charcot-marie-tooth neuropathy, type 4g; cmt4g
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 4G · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 4G · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 4G · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 4G · 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 4G.
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