Living with Charcot-Marie-Tooth disease axonal type 2Q
A rare inherited nerve condition starting in the teen or adult years with slowly worsening weakness in the lower legs.
Understanding Charcot-Marie-Tooth disease axonal type 2Q
It starts in the teen years or adulthood. Weakness is mostly in the lower legs and happens on both sides. People also have weak or absent reflexes, high foot arches, and mild to moderate loss of deep sensation.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs
- Muscle wasting
- High-arched feet (pes cavus)
- Reduced reflexes
- Less sense of vibration in the feet
- Changes in sensation
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 DHTKD1 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 DHTKD1 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: autosomal dominant axonal charcot-marie-tooth disease type 2q; autosomal dominant charcot-marie-tooth disease type 2q; charcot-marie-tooth disease caused by mutation in dhtkd1; charcot-marie-tooth disease, axonal, autosomal dominant, type 2q; charcot-marie-tooth neuropathy type 2q; charcot-marie-tooth neuropathy, type 2q
Patient organizations
- CMT Research FoundationCharcot-Marie-Tooth disease axonal type 2Q · 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 2Q.
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