Living with Neuronopathy, distal hereditary motor, autosomal recessive 4
A rare inherited nerve and muscle condition with weakness that starts after normal early development and spreads over time.
Understanding Neuronopathy, distal hereditary motor, autosomal recessive 4
After normal motor development in early childhood, people have weakness in the muscles near the center of the body, with early weakness in the hands and feet. It can progress quickly to widespread weakness with tight joints, severe curved spine, a deep curve in the lower back, and breathing problems that may need help from a ventilator. Cranial nerve functions are normal. A milder form with slower progress has been reported.
Signs & symptoms
GARD doesn't list a symptom list, but the summary describes these features:
- Weakness in muscles near the center of the body
- Weakness in the hands and feet
- Tight joints (contractures)
- Severe curved spine (scoliosis)
- Deep curve in the lower back
- Breathing weakness over time
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 PLEKHG5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 PLEKHG5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: autosomal recessive distal spinal muscular atrophy type 4; autosomal recessive lower motor neuron disease with childhood onset; distal spinal muscular atrophy 4; distal spinal muscular atrophy type 4; dsma4; neuropathy, distal hereditary motor, autosomal recessive 4
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neuronopathy, distal hereditary motor, autosomal recessive 4.
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