Living with Spinal muscular atrophy with respiratory distress type 2
A rare genetic condition of nerve cells that control muscles, with early breathing problems, muscle weakness and tight joints.
Understanding Spinal muscular atrophy with respiratory distress type 2
People have breathing trouble from early on because the diaphragm is paralyzed. They also have weakness in the hands and feet, tight joints (contractures), and low muscle tone in the trunk. It looks much like SMARD type 1 but involves a different gene. Signs start in the newborn period.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, features include:
- Early breathing problems
- Paralysis of the diaphragm
- Weakness in the hands and feet
- Joint tightness (contractures)
- Low muscle tone in the trunk
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 LAS1L 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
GARD lists changes in the LAS1L gene. It doesn't describe the inheritance pattern in this record.
Also known as: diaphragmatic spinal muscular atrophy type 2; severe infantile axonal neuropathy with respiratory failure type 2; smard2; smard2 - spinal muscular atrophy with respiratory distress type 2; x-linked spinal muscular atrophy with respiratory distress
Patient organizations
- Cure SMASpinal muscular atrophy with respiratory distress type 2 · United States
- Muscular Dystrophy AssociationSpinal muscular atrophy with respiratory distress type 2 · United States
- 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 Spinal muscular atrophy with respiratory distress type 2.
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