Spinal Muscular Atrophy: A Clinical and Research Update

Markowitz, Jennifer A.; Singh, Priyamvada; Darras, Basil T.

doi:10.1016/j.pediatrneurol.2011.09.001

Cited by 153 publications

(136 citation statements)

References 132 publications

(180 reference statements)

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“…In a recent update, Markowitz et al 3 stated that SMA patients have excessive fat mass in relation to their muscle mass even for patients with normal BMI, as observed in our Group I. This fact may suggest to the nutritional health professional, who may assess the SMA patient only by BMI, to prescribe a dietary program to increase weight 6 that he should this reinforcing the fat accumulation in this population.…”

Section: Discussionmentioning

confidence: 59%

“…Spinal muscular atrophy (SMA) is a recessive, autosomal neuromuscular disease characterized by degeneration of anterior horn spinal cord motor cells and brain stem neurons [1][2][3][4][5] . It is classified by disease severity and the age at on set of symptoms, namely type I for the most severe cases and type IV for those presenting few complications 1,3,[6][7][8] .…”

Section: Introductionmentioning

confidence: 99%

“…It is classified by disease severity and the age at on set of symptoms, namely type I for the most severe cases and type IV for those presenting few complications 1,3,[6][7][8] . Type II SMA infants get to three point of sitting independent and present thoracic deformity because of muscle weakness, whide causes postural deviations.…”

Section: Introductionmentioning

confidence: 99%

“…Type III SMA onset occurs in older children. Patients with type III get to three point of walking, wether or not they maintain this ability throughout adulthood [1][2][3]6,7 . SMA patients present progressive symmetrical proximal weakness and hypotonia [1][2][3][4]6,8 , but there is no sensory abnormality 7 .…”

Section: Introductionmentioning

confidence: 99%

“…Patients with type III get to three point of walking, wether or not they maintain this ability throughout adulthood [1][2][3]6,7 . SMA patients present progressive symmetrical proximal weakness and hypotonia [1][2][3][4]6,8 , but there is no sensory abnormality 7 . Besides muscle weakness, respiratory 9 , orthopedic 5 , and nutritional [10][11][12] problems are particularly note wortley.…”

Section: Introductionmentioning

confidence: 99%

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Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Mainenti

Sousa

Dias

et al. 2013

J. Hum. Growth Dev.

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Introduction: spinal muscular atrophy patients present muscle weakness, orthopedic problems, nutritional complications and respiratory impairment. Lean mass and fat mass modifications are also expected in this population. Objective: to verify the body composition and chest expansion of type II and III spinal muscular atrophy patients. Methods: fourteen individuals were evaluated: seven patients in Group I of 9 (7-12) years of age, weighing 29.7 (23.5-60.0) kg; and seven children without the disease in Group II of 9 (9-12) years, weighing 31.0 (27.8-54.1) kg. Patients' monofrequency bioelectrical impedance was used for analyze body composition. Chest, hip and abdominal girths were measured by a flexible steel tape. The SPSS program was used to statistical analysis (p < 0.05). Results: patients presented higher impedance: 1416.9 (850.5-1559.1) vs 788.0 (683.6-853.8), P < 0.05; and fat percentage: 31.2 (23.9-46.6) vs 19.1 (14.9-27.0)%, P < 0.05. The difference between forced inspiration and forced expiration thorax girth was smaller for patients when comparing to Group II: 3.0 (0.8-4.4) vs. 5.0 (3.9-6.5) cm, P<0.05. Conclusions: patients with spinal muscular atrophy presented higher adiposity and lower chest expansion.

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Section: Discussionmentioning

confidence: 59%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Mainenti

Sousa

Dias

et al. 2013

J. Hum. Growth Dev.

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Spinal Muscular Atrophy

et al. 2017

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Prognostic Factors and Treatment‐Effect Modifiers in Spinal Muscular Atrophy

Baranello

Gorni

Daigl

et al. 2021

Clin Pharma and Therapeutics

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Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease characterized by loss of motor neurons and muscle atrophy. Untreated infants with type 1 SMA do not achieve major motor milestones, and death from respiratory failure typically occurs before 2 years of age. Individuals with types 2 and 3 SMA exhibit milder phenotypes and have better functional and survival outcomes. Herein, a systematic literature review was conducted to identify factors that influence the prognosis of types 1, 2, and 3 SMA. In untreated infants with type 1 SMA, absence of symptoms at birth, a later symptom onset, and a higher survival of motor neuron 2 ( SMN2 ) copy number are all associated with increased survival. Disease duration, age at treatment initiation, and, to a lesser extent, baseline function were identified as potential treatment‐modifying factors for survival, emphasizing that early treatment with disease‐modifying therapies (DMT) is essential in type 1 SMA. In patients with types 2 and 3 SMA, factors considered prognostic of changes in motor function were SMN2 copy number, age, and ambulatory status. Individuals aged 6–15 years were particularly vulnerable to developing complications (scoliosis and progressive joint contractures) which negatively influence functional outcomes and may also affect the therapeutic response in patients. Age at the time of treatment initiation emerged as a treatment‐effect modifier on the outcome of DMTs. Factors identified in this review should be considered prior to designing or analyzing studies in an SMA population, conducting population matching, or summarizing results from different studies on the treatments for SMA.

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Spinal Muscular Atrophy: A Clinical and Research Update

Cited by 153 publications

References 132 publications

Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Body Composition and Chest Expansion of Type II and III Spinal Muscular Atrophy Patients

Spinal Muscular Atrophy

Prognostic Factors and Treatment‐Effect Modifiers in Spinal Muscular Atrophy

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