Overview
Spinal muscular atrophy with respiratory distress type 2 (SMARD2) is an extremely rare genetic condition that affects the nerves controlling muscles, particularly those involved in breathing. It belongs to a group of diseases called spinal muscular atrophies, which cause progressive muscle weakness due to the loss of motor neurons — the nerve cells in the spinal cord that send signals to muscles. In SMARD2, the breathing muscles (especially the diaphragm) are severely affected, leading to serious breathing difficulties that often appear early in life. Babies and young children with this condition may develop weakness in the arms and legs, have trouble feeding, and experience life-threatening respiratory failure. SMARD2 is caused by mutations in the LAS1L gene, which is located on the X chromosome. This means the condition follows an X-linked pattern of inheritance and primarily affects males, though females can sometimes show milder symptoms. The disease is distinct from the more commonly known forms of spinal muscular atrophy (SMA types 1-4), which are caused by mutations in the SMN1 gene. Currently, there is no cure for SMARD2. Treatment focuses on managing symptoms, especially supporting breathing through mechanical ventilation, and providing nutritional support. Physical therapy and rehabilitation may help maintain some muscle function. Because this condition is so rare, research is still ongoing to better understand the disease and develop targeted therapies.
Also known as:
Key symptoms:
Severe breathing difficulties due to diaphragm weaknessMuscle weakness in arms and legsPoor muscle tone (floppy baby)Difficulty feeding or swallowingWeak cryFailure to thrive or poor weight gainReduced or absent reflexesRespiratory failure requiring ventilationMuscle wasting (atrophy)Limited movement of limbsRecurrent lung infectionsIntellectual disability in some cases
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Spinal muscular atrophy with respiratory distress type 2.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Spinal muscular atrophy with respiratory distress type 2.
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5 articlesCaregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of breathing support will my child need, and how will this change over time?,Are there any clinical trials or experimental treatments available for SMARD2?,What is the expected course of this disease for my child specifically?,How should we handle respiratory infections or emergencies at home?,What feeding support options are available, and when should we consider a feeding tube?,Should other family members be tested for carrier status of the LAS1L gene mutation?,What palliative care and family support services are available to us?
Common questions about Spinal muscular atrophy with respiratory distress type 2
What is Spinal muscular atrophy with respiratory distress type 2?
Spinal muscular atrophy with respiratory distress type 2 (SMARD2) is an extremely rare genetic condition that affects the nerves controlling muscles, particularly those involved in breathing. It belongs to a group of diseases called spinal muscular atrophies, which cause progressive muscle weakness due to the loss of motor neurons — the nerve cells in the spinal cord that send signals to muscles. In SMARD2, the breathing muscles (especially the diaphragm) are severely affected, leading to serious breathing difficulties that often appear early in life. Babies and young children with this condit
How is Spinal muscular atrophy with respiratory distress type 2 inherited?
Spinal muscular atrophy with respiratory distress type 2 follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spinal muscular atrophy with respiratory distress type 2 typically begin?
Typical onset of Spinal muscular atrophy with respiratory distress type 2 is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Spinal muscular atrophy with respiratory distress type 2?
1 specialists and care centers treating Spinal muscular atrophy with respiratory distress type 2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.