Living with Neuronopathy, distal hereditary motor, autosomal dominant 8
A rare inherited condition present at birth with weakness and wasting of leg muscles that doesn't get worse, along with joint problems.
Understanding Neuronopathy, distal hereditary motor, autosomal dominant 8
It is usually present at birth and causes weakness and wasting of the leg muscles. Joint problems include tight muscles (contractures) and overly loose joints. Other features may include bone differences, late walking, and bladder and bowel problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wasting of the muscles farthest from the center of the body
- Muscle wasting that does not get worse
- Joint stiffness
- Low muscle tone
- Late walking
- Bladder and bowel problems (less common)
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 TRPV4 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
GARD lists changes in the TRPV4 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contracture; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; neuronopathy, distal hereditary motor, type viii
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 Neuronopathy, distal hereditary motor, autosomal dominant 8.
Explore research for Neuronopathy, distal hereditary motor, autosomal dominant 8
Explore actively recruiting Neuronopathy, distal hereditary motor, autosomal dominant 8 studies with HealthSpark.
Find actively recruiting studies for Neuronopathy, distal hereditary motor, autosomal dominant 8 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 Neuronopathy, distal hereditary motor, autosomal dominant 8 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 Neuronopathy, distal hereditary motor, autosomal dominant 8
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 Neuronopathy, distal hereditary motor, autosomal dominant 8 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.