Swallowing and speech problems are common in both children and adults with spinal muscular atrophy (SMA), and evident across disease types, a study reports. The most common bulbar complaints irrespective of SMA type are difficulties in biting, fatigue while chewing, choking, and a weak speaking voice. (Bulbar refers to…
Patients with spinal-bulbar muscular atrophy (SBMA) are more likely to be affected by metabolic disorders, including insulin resistance and fatty liver disease, which can lead to heart disease and serious liver damage, a study says. The study, “Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in…
One potentially hazardous symptom of the neurodegenerative disorder spinal muscular atrophy (SMA) is excessive drooling, which, in addition to having negative emotional side effects, can lead to choking among patients. Medications are available that can help alleviate drooling in people with SMA...
Spinal muscular atrophy (SMA) is a progressive genetic disorder that affects the nervous system and muscles. It is estimated to affect 1 in every 6,000 to 10,000 people. It is caused by a loss of specialized nerve cells, called lower motor neurons, leading to muscle weakness and muscle cell…
Spinal muscular atrophy (SMA) is a genetic disease that causes muscle weakness. According to Spinal Muscular Support UK, there are various forms of the disease that affect different parts of the body and vary in severity. We’ve put together a list of some of the rarer forms of the disease: Distal…
Medical education researcher Gregory Salinas, Ph.D. is conducting a survey to learn more about the challenges of patients suffering from type II or III spinal muscular atrophy (SMA). The 15-minute survey, mentioned in the website of Cure SMA, is for not only those who suffer from SMA but their caregivers, too,…
In a recent study entitled “Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients,” the authors characterized stem cells and motor neuron derivatives from patients with spinal and bulbar muscular atrophy. The study, which was published in the Neurobiology of Disease journal, contributes…
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare adult-onset form of spinal muscular atrophy (SMA), first described by neurologist William Kennedy in a 1968 report. It is a progressive neurodegenerative disorder mostly affecting men.
Japanese researchers have identified ways to measure the swallowing difficulties of people with spinal and bulbar muscular atrophy, or SBMA. Two ways in particular could be useful in clinical trials, they said. One is the amount of swallowing residue left in the pharynx — the area in the back of the throat. Another is using the penetration–aspiration scale, which measures how far residue enters the airways and how much a person can expel back out. Hallmarks of SBMA include muscle atrophy, weakness, speech problems and dysphagia, or difficulty swallowing. SBMA progresses slowly, so it takes about 10 years for swallowing difficulties to develop. Doctors use the presence of the difficulties to predict patients' disease outcomes. But until now, there have been no reliable ways of measuring how prevalent the different kinds of swallowing problems are with these patients. Researchers at Nagoya University Graduate School of Medicine hoped to rectify this. They used X-rays to do a swallowing study in 111 SBMA patients and 53 healthy controls. The goal was to learn more about the different kinds of swallowing difficulties and possible ways to treat them that could be tested in clinical trials. The team studied patients' swallowing with a videofluoroscope. Patients drank 3 milliliters of a 40 barium sulfate solution that would show up on X-rays, revealing swallowing patterns. Researchers used videotape to record the patterns. An analysis of more than 40 patients showed three common swallowing abnormalities. One was leaving swallowing residue behind the base of the tongue. Another was residue entering the nasal passage. And still another was patients being unable to move their tongue well enough while swallowing. Another finding was that four swallowing abnormality patterns were much worse in SBMA patients than in healthy controls. One was swallowing residue entering the pharynx. Another was residue staying in the mouth. Still another was patients having to swallow several times. And the other was penetration-aspiration scores. The bottom line, researchers said, was that the most common SBMA swallowing difficulties were impaired tongue movement and residue going into nasal passages, followed by residue in the pharynx. They concluded that residue in the pharynx and penetration–aspiration scale scores could be useful ways of measuring swallowing difficulties in clinical trials, although they noted that videofluoroscopy has limitations.
Despite treatment with leuprorelin over three years, all spinal and bulbar muscular atrophy (SBMA) patients in a study in Korea continued to experience declines in motor function, a new study found. However, those individuals with less disability at the start of treatment experienced slower disease progression, “indicating a more…