Living with Autosomal recessive distal spinal muscular atrophy 2
A rare inherited condition with slowly worsening weakness and wasting in the hands and feet, starting in childhood.
Understanding Autosomal recessive distal spinal muscular atrophy 2
Weakness and muscle wasting affect both sides of the body without loss of feeling. It first affects the legs near the end of the first decade of life and then the arms within about two years. People can develop foot drop and clawed hands. Brisk knee reflexes and the Babinski sign fade as the condition steadies about 10 years after onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness and wasting in the hands and feet
- Foot drop
- Claw hand
- Hammertoes and high-arched feet
- Absent ankle reflexes
- Overactive knee reflexes
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 SIGMAR1 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
It is caused by changes in the SIGMAR1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive distal spinal muscular atrophy type 2; dhmnj; distal hereditary motor neuropathy jerash type; distal hereditary motor neuropathy, jerash type; dsma2; hereditary motor neuropathy, jerash type
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 Autosomal recessive distal spinal muscular atrophy 2.
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