Living with X-linked distal spinal muscular atrophy type 3
A rare inherited nerve and muscle condition causing slowly worsening weakness in the hands and feet.
Understanding X-linked distal spinal muscular atrophy type 3
The muscles in the hands and feet slowly shrink and weaken. Sensation is mostly spared. Some people have mild weakness in the upper legs and hand deformities, mainly in males. It can begin at a variety of ages.
Signs & symptoms
GARD lists these symptoms as less common:
- Muscle wasting in the hands and feet
- Weakness in the hands and feet
- Reduced reflexes
- Decreased feeling in the hands and feet
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 ATP7A 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 The Foundation for Peripheral Neuropathy 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
X-linked distal spinal muscular atrophy type 3 is caused by changes in the ATP7A gene and follows X-linked inheritance.
Also known as: atp7a (atpase copper transporting alpha) related distal motor neuropathy; atp7a spinal muscular atrophy; atp7a-related distal motor neuropathy; dsmax; neuronopathy, distal hereditary motor, x-linked; neuropathy, distal hereditary motor, x-linked
Patient organizations
- 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 X-linked distal spinal muscular atrophy type 3.
Explore research for X-linked distal spinal muscular atrophy type 3
Explore actively recruiting X-linked distal spinal muscular atrophy type 3 studies with HealthSpark.
Find actively recruiting studies for X-linked distal spinal muscular atrophy type 3 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting X-linked distal spinal muscular atrophy type 3 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for X-linked distal spinal muscular atrophy type 3
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your X-linked distal spinal muscular atrophy type 3 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.