Spinal muscular atrophy, or SMA, is a genetic disorder that is divided into five main types based on the age at which symptoms first appear.
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A team of U.S. researchers has identified cellular mechanisms that might lead to the loss of nerve cell projections in spinal and bulbar muscular atrophy (SBMA), a rare adult-onset form of the genetic disease. That’s according to a new preclinical study showing that abnormal protein clumps in the cell’s…
Blood biomarker levels of muscle damage — rather than nerve cell damage — are significantly altered in people with a rare form of adult-onset spinal muscular atrophy (SMA) called the Jokela type (SMAJ), according to a study in Finland. Also, the levels of creatinine, a biomarker of muscle mass,…
Increasing the levels of brain-derived neurotrophic factor (BDNF) — a molecule involved in the communication between nerve cells and muscle — specifically in muscle delayed symptom onset and slowed disease progression in a mouse model of spinal and bulbar muscular atrophy (SBMA), a study has found. BDNF’s benefits…
A new mutation in the UBEA1 gene was identified as the cause of an atypical form of spinal and bulbar muscular atrophy (SBMA), or Kennedy’s disease, in four men of an Iranian family, a study shows. While UBEA1 mutations are typically associated with X-linked infantile spinal muscular atrophy (SMA), which is…
In the study entitled “Observational study of spinal muscular atrophy type I and implications for clinical trials” published in the Neurology journal, the authors describe the clinical features of spinal muscular atrophy type I, data that can be useful to future design of clinical trials. Spinal…
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.
The European Medicines Agency has granted a priority medicines, or PRIME, designation to oral therapy candidate risdiplam to treat spinal muscular atrophy (SMA). PRIME designation is intended to encourage the development of promising therapies by speeding their evaluation so that the therapies, if proven effective, can be available to patients…
A team of researchers from Harvard University and the Karolinska Institute in Sweden unveiled the cellular pathway leading to the specific death of motor neurons in spinal muscular atrophy (SMA). The study entitled “Genome-wide RNA-Seq of Human Motor Neurons Implicates Selective ER Stress Activation in Spinal Muscular…
Training with a wearable robotic hybrid assistive limb (HAL) device over two years was found to markedly improve the walking abilities of three patients with spinal and bulbar muscular atrophy (SBMA) who were also receiving treatment with leuprorelin, according to a new study by researchers in Japan. No notable…