Standard of Care for Spinal Muscular Atrophy

While spinal muscular atrophy primarily manifests with weakness of skeletal muscle, secondary complications regularly accompany that weakness and further compromise overall functioning. Difficulties with breathing, progressive skeletal deformity, impaired nutrition, and other problems often cause early death, may be discomforting or painful, and limit access to a normal life. Much that is the experience of spinal muscular atrophy is the experience of its complications. Complications also greatly confound clinical trial design, necessitating more expensive trials that have less statistical power to identify a treatment effect. Development and refinement of a current standard of care is an ongoing process that aspires to lessen the burden of disease and level of weakness at every age. Advancement of understanding about the best possible standard of care aims both to benefit clinical research and to improve the life of affected individuals and their families.