Living with Autosomal recessive distal spinal muscular atrophy 1
An inherited condition that causes muscle weakness and breathing problems, usually beginning in infancy.
Understanding Autosomal recessive distal spinal muscular atrophy 1
Early signs include noisy, hard breathing, a weak cry, feeding problems, and repeated pneumonia. Often between 6 weeks and 6 months of age, the diaphragm (the muscle that helps breathing) becomes paralyzed, so a breathing machine is needed long term. Muscle weakness starts in the hands and feet and spreads. Within 2 years it usually stops getting worse.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Raised, weak diaphragm (diaphragmatic eventration)
- Low muscle tone in newborns
- Noisy, hard breathing and weak cry (from summary)
- Muscle weakness in hands and feet (from summary)
- Curved spine (kyphoscoliosis, from summary)
- Feeding problems (from summary)
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 IGHMBP2 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
Muscular Dystrophy Association and 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: Muscular Dystrophy Association, 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 Cure SMA 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 IGHMBP2 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 1; autosomal recessive spinal muscular atrophy with respiratory distress; dhmn6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuronopathy type vi; distal hereditary motor neuropathy type 6
Patient organizations
- Cure SMAAutosomal recessive distal spinal muscular atrophy 1 · United States
- Muscular Dystrophy AssociationAutosomal recessive distal spinal muscular atrophy 1 · United States
- Gwendolyn Strong FoundationAutosomal recessive distal spinal muscular atrophy 1 · United States
- SmashSMARDAutosomal recessive distal spinal muscular atrophy 1 · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
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