Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Department of Clinical and Molecular Genetics and Rare Diseases Unit Hospital Vall d'Hebron and Centro de Investigacíon Biomédica en Red Enfermedades Raras (CIBERER) Barcelona Spain.
From the Child Development and Exercise Center (B.B., L.E.H.) and Department of Pediatric Gastroenterology (E.E.S.N.), Wilhelmina Children's Hospital, and UMC Utrecht Brain Center (R.I.W., F.-L.A., R.P.A.v.E., H.S.G., W.L.v.d.P.), University Medical Center Utrecht; Knowledge Institute for Medical Specialists (J.F.d.G.), University of Applied Sciences; and Biostatistics & Research Support (R.P.A.v.E.), Julius Center for Health Sciences and Primary Care, Utrecht, the Netherlands.
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, Dipartimento di Neuroscienze e Neuroriabilitazione, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Departments of Neurology (TD, CW, SDY, KAH, JS, JWD), Rehabilitation (CEM), and Radiology (MZ, MW), Stanford University School of Medicine, Palo Alto, CA; Departments of Biostatistics and Computational Biology (MPM), and Neurology (MPM and WBM), University of Rochester Medical Center, NY; Department of Neurology (AP,BTD), Boston Children's Hospital, MA; Department of Neurology (DCD), Columbia University, New York; Department of Neurology (AMG EAK, ZZ) Children's Hospital of Philadelphia, PA; and Department of Pediatrics (RSF) Nemours Children's Hospital, Orlando, FL.
Departments of Neurology (TD, CW, SDY, KAH, JS, JWD), Rehabilitation (CEM), and Radiology (MZ, MW), Stanford University School of Medicine, Palo Alto, CA; Departments of Biostatistics and Computational Biology (MPM), and Neurology (MPM and WBM), University of Rochester Medical Center, NY; Department of Neurology (AP,BTD), Boston Children's Hospital, MA; Department of Neurology (DCD), Columbia University, New York; Department of Neurology (AMG EAK, ZZ) Children's Hospital of Philadelphia, PA; and Department of Pediatrics (RSF) Nemours Children's Hospital, Orlando, FL.
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Nusinersen was effective in improving motor function and survival in infantile and childhood-onset spinal muscular atrophy (SMA), and the value of real-world experiences in adult SMA patients increase...
Thirty-two SMA patients treated with nusinersen were included in the study....
Median age at nusinersen initiation was 33.5 (20.0-60.0) years and 23 of SMA patients were male. Six (18.8%) patients had SMA type 2, and 26 (81.2%) had SMA type 3. Median follow-up period of patients...
Overall, 78% of patients have responded to treatment according to HFMSE or 6MWT. ALSFRS-R and 6MWT may be alternative tools to monitor nusinersen effect....
The 5q-associated spinal muscular atrophy (SMA) is a hereditary motor neuron disease leading to progressive tetraplegia, often involving the bulbopharyngeal and respiratory muscle groups. The disease ...
This review article provides an update on the current treatment strategies for SMA in children and adults....
Spinal muscular atrophy (SMA) is a progressive disease of the lower motor neurons associated with recessive loss of the SMN1 gene, and which leads to worsening weakness and disability, and is fatal in...
Spinal muscular atrophy (SMA) is an autosomal recessive condition affecting lower motor neurons causing progressive muscle atrophy. Anorexia nervosa (AN) is a psychiatric disorder characterised by int...
A 14-year-old female with SMA2 presented with 12 months of declining body weight to a nadir of 24.8 kg (BMI 11). This was initially attributed to medical complications including pneumonia and gastroen...
Low body weight, feeding issues, gastrointestinal dysmotility, and respiratory infections are common in SMA and diagnostic overshadowing can lead to delayed recognition of anorexia nervosa. Change to ...
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder. Despite increased survival due to novel therapies, morbidity from respiratory complications still persists. We aim to describe these p...
Retrospective review of medical records of all children with SMA followed at the multidisciplinary respiratory neuromuscular clinic at Schneider Childrens' Medical Center of Israel over a 16-year peri...
Sixty-one SMA patients, aged 1 month to 21 years, were included in this cohort. Of these, sputum cultures were collected from 41 patients. Overall, 288 sputum cultures were obtained, and 98 (34%) were...
Airway bacterial colonization is common in SMA type I patients and is not decreased by Onasemnogene abeparvovec or Nusinersen treatment....
Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle a...
Data from oral function tests in 43 individuals were analyzed. Differences in oral function between individuals with different SMA types and numbers of SMN2 copies were tested. Spearman´s rho correlat...
The absolute maximum measures of oral function (maximum bite force, maximum tongue pressure, maximum mouth opening) were able to discriminate between individuals with different SMA types, individuals ...
Among the oral function tests maximum tongue pressure and maximum mouth opening are particulary promising as clinical and sensitive outcome measures for clinical trials. Oral function tests may supple...
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Hypoplasia of the corpus callosum is underdevelopment or thinness of the co...
A boy with callosal hypoplasia, small penis, and small testes had been perceived with motor regression at 5 months. He was referred to the rehabilitation department and neurology department at 7 month...
Some extra features which could not belong to neuromuscular manifestation made the diagnosis and treatment of SMA more complicated....
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA le...
Investigating and following the motor function in children with SMA is challenging. In this issue of Neuromuscular Disorders, Perumal et al. (2023) describes how the smartphone sensor can be used to a...
Spinal muscular atrophy (SMA) is a pediatric-onset neuromuscular disorder caused by insufficient survival motor neuron (SMN) protein. SMN restorative therapies are now approved for the treatment of SM...
