Sleep Study to assess breathing and lung function during sleep by measuring oxygen levels and carbon dioxide levels among other items. Children’s Hospital of Philadelphia is a charitable 501(c)(3) nonprofit organization. Ours is one of only a few programs in the country to offer this unique approach to managing this condition. Diagnostic tests that may be performed to confirm the diagnosis of spinal muscular atrophy include: Treatment for spinal muscular atrophy is very complex and requires coordinated care from many different subspecialists. During a physical examination, your child's doctor will obtain a complete medical history of your child and may ask if there is a family history of any medical problems. When both parents are carriers (or they each have one abnormal copy of the gene and one normal copy), there is a one in four (25%) chance, with each pregnancy, to have a child with SMA. However, each SMN2 gene functions about 10-15% as well as a SMN1 gene. Pulmonary function testing to assess muscle strength and the volume, speed and flow of air exhaled by the lungs. Another recent advancement in spinal muscular atrophy treatment is gene replacement therapy.

A child with spinal muscular atrophy requires frequent medical evaluations throughout their lifespan. The copy number of SMN2 genes correlates with disease severity, and is responsible for some of the broad variety in clinical presentation. The second goal is targeted treatments to help slow down, and in some cases stop, the progression of SMA. Parents usually have no symptoms, but still carry the gene. Many others will stabilize and not experience any further loss or deterioration of skills. At CHOP, treatment of this condition involves surgery to reposition the ribs in order to maintain or preserve lung function and prevent further collapse. Pulse oximetry to measure oxygen levels in the blood. These would include bronchodilators or hypertonic saline to assist in keeping the airways clear and to thin secretions as way to increase their ability to be “coughed up.”, ©2020 The Children’s Hospital of Philadelphia.

See our, URL of this page: https://medlineplus.gov/spinalmuscularatrophy.html, (National Institute of Neurological Disorders and Stroke), (National Human Genome Research Institute), References and abstracts from MEDLINE/PubMed (National Library of Medicine), About Spinal Muscular Atrophy (SMA): Frequently Asked Questions, Electromyography (EMG) and Nerve Conduction Studies, spinal and bulbar muscular atrophy: MedlinePlus Genetics, spinal muscular atrophy with lower extremity predominance: MedlinePlus Genetics, spinal muscular atrophy with progressive myoclonic epilepsy: MedlinePlus Genetics, spinal muscular atrophy: MedlinePlus Genetics, X-linked infantile spinal muscular atrophy: MedlinePlus Genetics, ClinicalTrials.gov: Muscular Atrophy, Spinal. Treatments help with symptoms and prevent complications. Untreated, it is a neurodegenerative, progressive disease, which can be fatal in its more severe forms. Early results of SMA treatment with Spinraza are promising. Spinal muscular atrophy (SMA) is a genetic disease that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Some people have a normal life expectancy. Muscle weakness is the main symptom, and this can affect breathing, eating, posture, and movement. Untreated, it is a neurodegenerative, progressive disease, which can be fatal in its more severe forms. There are many types of SMA. We have the experts, support services, facilities and technology in place to ensure your child receives the best possible care. Each child may experience symptoms differently. NIH: National Institute of Neurological Disorders and Stroke, The primary NIH organization for research on, MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. SMA is caused by mutations in a gene called survival motor neuron 1 (or SMN1). Transcutaneous carbon dioxide level to measure carbon dioxide levels in the blood. Our surgical team is mindful to leave an area of the child’s spine unfused to allow for genetically-targeted therapy injections, when needed. These techniques may include: For more details please see “Breathing Problems in Children with Neuromuscular Conditions.”. In addition, as muscle weakness progresses it can become difficult for patients to breathe in oxygen and remove carbon dioxide.