Natural History in Proximal Spinal Muscular Atrophy

Zerres, Klaus; Rudnik‐Schöneborn, Sabine

doi:10.1001/archneur.1995.00540290108025

Cited by 464 publications

(134 citation statements)

References 25 publications

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“…Disease severity spans a wide range of phenotypes divided into five categories based upon maximal motor function: type 0, (neonates who present with severe hypotonia often with history of decreased fetal movements), type 1 (never sit independently), type 2 (sit but never stand independently), type 3 (ambulatory children), and type 4 (ambulatory adults) 9, 1011, 12, 13, 14.…”

Section: Introductionmentioning

confidence: 99%

“…15, 16 Natural history studies in the SMA type 1 population demonstrated shortened lifespan, with 68% mortality within the first 2 years of life 9, 10. With the advent of standardized care guidelines,17 the mortality of SMA type 1 infants has been reduced at 2 years of age to 30%, with nearly half of these infants dependent upon noninvasive ventilation 18.…”

Section: Introductionmentioning

confidence: 99%

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Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

Kolb

Coffey

Yankey

et al. 2016

Ann Clin Transl Neurol

107

128

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ObjectiveThis study prospectively assessed putative promising biomarkers for use in assessing infants with spinal muscular atrophy (SMA).MethodsThis prospective, multi‐center natural history study targeted the enrollment of SMA infants and healthy control infants less than 6 months of age. Recruitment occurred at 14 centers within the NINDS National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) Network. Infant motor function scales and putative electrophysiological, protein and molecular biomarkers were assessed at baseline and subsequent visits.ResultsEnrollment began November, 2012 and ended September, 2014 with 26 SMA infants and 27 healthy infants enrolled. Baseline demographic characteristics of the SMA and control infant cohorts aligned well. Motor function as assessed by the Test for Infant Motor Performance Items (TIMPSI) and the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP‐INTEND) revealed significant differences between the SMA and control infants at baseline. Ulnar compound muscle action potential amplitude (CMAP) in SMA infants (1.4 ± 2.2 mV) was significantly reduced compared to controls (5.5 ± 2.0 mV). Electrical impedance myography (EIM) high‐frequency reactance slope (Ohms/MHz) was significantly higher in SMA infants than controls SMA infants had lower survival motor neuron (SMN) mRNA levels in blood than controls, and several serum protein analytes were altered between cohorts.InterpretationBy the time infants were recruited and presented for the baseline visit, SMA infants had reduced motor function compared to controls. Ulnar CMAP, EIM, blood SMN mRNA levels, and serum protein analytes were able to distinguish between cohorts at the enrollment visit.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

Kolb

Coffey

Yankey

et al. 2016

Ann Clin Transl Neurol

107

128

View full text Add to dashboard Cite

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“…The standard SMA classification system bases diagnosis of type I on age of onset of symptoms and predicts rapid neuromuscular deterioration. 2,17 However, several studies have shown that prognosis based on this classification can be misleading, citing multiple examples of children who had onset of weakness before age 6 months and attained independent sitting skills and did not develop respiratory insufficiency for years. 1,18,19 These children are ultimately reclassified as having SMA type II.…”

Section: Discussionmentioning

confidence: 99%

“…Children with this disease typically have normal intelligence and remain alert and attentive to their environment, despite muscular weakness, and usually die from respiratory failure by age 2 years. 1,2 Despite evidence from a small number of centers reporting success in prolonging life with mechanical ventilation, [3][4][5][6] respiratory support for children with SMA type I is not widely accepted. Several important textbooks of pediatrics and pediatric neurology, for example, recommend against any mode of artificial ventilation for these patients.…”

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confidence: 99%

Respiratory Support in Spinal Muscular Atrophy Type I: A Survey of Physician Practices and Attitudes

2002

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ABSTRACT. Objective. To determine whether there is variability in the attitudes and practices of physicians regarding treatment of respiratory failure in children with spinal muscular atrophy type I (SMA type I) and, if so, whether this variation is associated with professional training.Methods. This was a descriptive, cross-sectional survey mailed to a randomly selected subset of the Child Neurology Society, pediatric members of the Society of Critical Care Medicine and to the membership of the Pediatric Interest Section of the American Academy of Physical Medicine and Rehabilitation. A scenario of a child with SMA type I in respiratory distress was followed by questions that explored practices and attitudes regarding mechanical ventilation.Results. Fifty-seven percent of intensivists (75 of 132), 39% physiatrists (61 of 155), and 34% of neurologists (61 of 155) responded. Specialists differed as to whether they offered and/or recommended respiratory support to patients with SMA type I. Intensivists were less likely to offer and recommend tracheostomy than physiatrists. Intensivists were also significantly less likely than physiatrists to agree with statements supporting the ethical necessity of noninvasive mechanical ventilation (NIMV) and intubation in the setting of an acute respiratory illness, and NIMV and tracheostomy in the setting of chronic respiratory failure. Although parallel differences were found between physiatrists and neurologists regarding their attitudes toward mechanical ventilation, no significant differences were detected between intensivists and neurologists. Finally, physicians who reported that a high percentage of their patients with SMA type I received "comfort care only" also tended to view mechanical ventilation, ie, use of NIMV for chronic respiratory failure, use of intubation for an acute respiratory infection, and use of tracheostomy for chronic respiratory failure as an unreasonable intervention in most circumstances.Conclusions. We found a wide variation in physician practice regarding the mechanical ventilation of patients with SMA type I. This study suggests a wide variation not only in what is recommended but also in what is actually offered to families of these children. Furthermore, the study suggests that physician training and attitudes affect recommendations regarding mechanical ventilation and ultimately family decision making. S pinal muscular atrophy (SMA) type I, or Werdnig-Hoffman disease, is a devastating neuromuscular disease of childhood. Children with this disease typically have normal intelligence and remain alert and attentive to their environment, despite muscular weakness, and usually die from respiratory failure by age 2 years. 1,2 Despite evidence from a small number of centers reporting success in prolonging life with mechanical ventilation, 3-6 respiratory support for children with SMA type I is not widely accepted. Several important textbooks of pediatrics and pediatric neurology, for example, recommend against any mode of artificial ventilation for t...

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“…Particularities like different manifestation types as known from amyotrophic lateral sclerosis (ALS) were not included in the disease specification. The classification criteria of the LMND are a matter of controversial discussion, although a consensus has been found for juvenile-onset forms [5, 6]. However, besides rare distinct disease variants such as X-linked spinobulbar muscular atrophy, difficulties from the clinician’s point of view exist for adult-onset LMND, since for instance pure lower motor neuron involvement is a common feature in ALS patients and distinct ALS subtypes such as progressive muscular atrophy have been described [7].…”

Section: Introductionmentioning

confidence: 99%

Classification of Phenotype Characteristics in Adult-Onset Spinal Muscular Atrophy

et al. 2007

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Background/Aims: Degenerative lower motor neuron diseases (LMND) encompass a group of rare clinically and genetically heterogeneous disorders with the hallmark of anterior horn cell degeneration in the spinal cord and brainstem. In a recently proposed classification, LMND were subdivided according to the clinical disease pattern and time course. This study was performed to investigate the clinical practicability of the classification. Methods: In 22 patients with adult LMND (mean disease duration, 24 years), the disease course and detailed clinical, electrophysiological, magnetic resonance imaging, laboratory, and genetic investigations were analyzed. Results: All patients could be assigned to the distinct disease subgroups, i.e. 11 patients to the slowly progressive generalized form (group 1), one to the distal form (group 2), 3 to the segmental distal form (group 3a), and seven to the segmental proximal form (group 3b). Conclusions: The proposed classification was confirmed to be a practicable tool, and additional implications for the classification of LMND could be drawn from the data in our patient sample.

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Natural History in Proximal Spinal Muscular Atrophy

Cited by 464 publications

References 25 publications

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

Respiratory Support in Spinal Muscular Atrophy Type I: A Survey of Physician Practices and Attitudes

Classification of Phenotype Characteristics in Adult-Onset Spinal Muscular Atrophy

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