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In Physical Therapy, our goal is to improve independence and return the patient back to within functional limits. With my current patient with SMA, his goal for physical therapy is to improve his core strength and neck strength. I am the first to admit, I was a little frightened…

Spinal muscular atrophy (SMA) is an autosomal recessive, hereditary disease with a reported prevalence of 1 in 11,000 live births.[1]  As the disease affects motor neurons, the clinical manifestations relate to muscular weakness and atrophy.  The specific clinical course varies depending on the patient and the subtype of…

 According to the article “Spinal Muscular Atrophy1,” “with SMA the spared diaphragm, combined with weakened intercostal muscles, results in paradoxical breathing. Also with the involvement of bulbar motor neurons often tongue fasciculation, poor suck and swallow with increasing swallowing and feeding difficulty overtime.” A cause of death could be…

Our experience with SMA is a unique one. As parents of a 9 year-old with SMA, being medical professionals has given us somewhat of an advantage over finding doctors, medications, and treatments for our son. We hope to share a little of our experience and opinion with you. For most…

It’s known that children with spinal muscular atrophy (SMA) have a number of breathing issues, which are caused by weakened chest muscles. According to the SMA Foundation, these are the most common respiratory problems for children with SMA. Lung underdevelopment Usually, children’s lungs grow and develop over time. However, children with SMA have weak intercostal muscles that aren’t strong enough to help with…

Reldesemtiv improved muscle strength for walking and respiration in a dose-dependent manner in spinal muscular atrophy (SMA) patients, data from a Phase 2 clinical trial show. As a fast muscle activator, reldesemtiv will not treat the underlying causes of SMA — a lack of the SMN protein to nourish muscles…

Taking care of a child with spinal muscular atrophy (SMA) significantly affects several aspects of  families’ lives, including finances, career choices, social life, and mental health, according to an Australian study. The study, “Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Two specific mutations may help in identifying people who are carriers of spinal muscular atrophy (SMA) — those who do not have the disease but can pass it to children — and should be aware before starting a family, a study from Spain reports. The study, “Utility…

Patients with spinal muscular atrophy (SMA) types 2 and 3 are at risk of malnutrition, altered metabolic rates, and changes in body composition, a study reports. The study, “Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach,” appeared in…