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  • Neurology
  • A drug shown to be effective in the treatment of babies with the rare muscle-wasting disease spinal muscular atrophy may be effective for muscle control even when treatment is started in children seven months and older, according to a study published in the August 29, 2018, online issue of Neurology, the medical journal of the American Academy of Neurology. (news-medical.net)
  • muscle
  • Local atrophy of muscle, bone, or other tissues results from disuse or diminished activity or function. (britannica.com)
  • He set out on a path to correct the genes that cause these conditions, including spinal muscle atrophy (SMA), the most common inherited fatal disease in infants. (news-medical.net)
  • Spinal muscular atrophy manifests in various degrees of severity, which all have in common progressive muscle wasting and mobility impairment. (wikipedia.org)
  • Although spinal muscle atrophy has many forms, they are all genetically passed down from parent to child. (cedars-sinai.edu)
  • Muscle atrophy, caused by a progressive loss of the anterior horn cells in the spinal cord, is universal. (medscape.com)
  • A research team from Italy, led by Gerolamo Lanfranchi, analyzed muscle biopsies and genomic DNA from peripheral blood of four SMA I and five SMA III patients from the Neuromuscular Bank organised by Corrado Angelini at the University of Padova, to investigate which other muscle genes, other than the SMN defect, played a role in atrophy. (medindia.net)
  • Our work indicates that SMA I and III muscles are in different phases: the 'prolonged' atrophic condition typical of the SMA I muscle and the coexistence of atrophy and hypertrophy in SMA III muscle," says Lanfranchi. (medindia.net)
  • The signal is normally transmitted from the spinal cord to muscle via the motor neuron's axon, but in spinal muscular atrophies either the entire motor neuron or the motor neuron's axon loses the ability to transmit signals to muscles. (wikipedia.org)
  • clinical
  • If you or your child has spinal muscular atrophy, your clinical team will pass on information about you or your child to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). (www.nhs.uk)
  • Genentech, a member of the Roche Group, announced today interim clinical data from the dose-finding parts of the pivotal FIREFISH and SUNFISH studies investigating risdiplam in spinal muscular atrophy. (news-medical.net)
  • A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity. (news-medical.net)