Living with Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
An inherited nerve condition that causes muscle weakness and loss of reflexes, starting in infancy or childhood.
Understanding Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
Signs begin in infancy or childhood, with subtle delay or loss of motor skills. People then have slowly worsening weakness, muscle wasting, and absent reflexes in the arms and legs. Vibration sense is mildly reduced. The face can also be affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs and feet
- Muscle wasting
- Absent reflexes
- Clumsiness and frequent falls
- Foot drop and high-stepping walk
- Drooping upper eyelid (ptosis)
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 SCO2 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 and The Foundation for Peripheral Neuropathy 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, The Foundation for Peripheral Neuropathy
- 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
It is caused by changes in the SCO2 gene, linked to how the body handles copper. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive axonal cmt due to copper metabolism defect
Patient organizations
- Charcot-Marie-Tooth AssociationAutosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect · 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 Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect.
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