Living with Charcot-Marie-Tooth disease axonal type 2X
A rare inherited nerve condition with slowly worsening weakness and loss of feeling, mostly in the legs.
Understanding Charcot-Marie-Tooth disease axonal type 2X
It begins anywhere from childhood to adulthood with slowly worsening, sometimes uneven weakness and wasting in the hands and feet, and loss of feeling mostly in the lower legs. Other common features include high foot arches, curved spine, tight ankles, tremor, or bladder and genital problems. People usually keep walking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Wasting of lower leg muscles
- Foot drop
- High-arched feet (pes cavus)
- Curved spine (kyphoscoliosis)
- Tight ankles (ankle contracture)
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 SPG11 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
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: 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 CMT Research Foundation 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 SPG11 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: arcmt2x; autosomal recessive axonal charcot-marie-tooth disease type 2x; autosomal recessive charcot-marie-tooth disease type 2 due to spg11 (spg11 vesicle trafficking associated, spatacsin) mutation; autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation; autosomal recessive charcot-marie-tooth disease type 2x; charcot-marie-tooth disease caused by mutation in spg11
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2X · 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 axonal type 2X.
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