Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4

2018 ◽  
Vol 25 (3) ◽  
pp. 512-518 ◽  
Author(s):  
R. I. Wadman ◽  
C. A. Wijngaarde ◽  
M. Stam ◽  
B. Bartels ◽  
L. A. M. Otto ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Cross Sectional

Muscle strength and motor function in adolescents and adults with spinal muscular atrophy

Neurology ◽  
2020 ◽  
Vol 95 (14) ◽  
pp. e1988-e1998 ◽  
Author(s):  
Camiel A. Wijngaarde ◽  
Marloes Stam ◽  
Louise A.M. Otto ◽  
Bart Bartels ◽  
Fay-Lynn Asselman ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Older Patients ◽  
Muscular Atrophy ◽  
Compound Muscle Action Potential ◽  
Adult Patients ◽  
Cross Sectional ◽  
Floor Effects ◽  
Adolescents And Adults

ObjectiveTo assess longitudinal patterns of muscle strength, motor function, and maximal compound muscle action potential amplitudes (CMAPMAX) in older patients with spinal muscular atrophy (SMA), hypothesizing a continued decline of motor function parameters throughout life.MethodsWe measured muscle strength (Medical Research Council), motor function (Hammersmith Functional Motor Scale Expanded [HFMSE] and Motor Function Measure), and CMAPMAX in treatment-naive patients. We used both longitudinal and cross-sectional data in mixed models to analyze natural history patterns.ResultsWe included 250 patients with SMA types 1c through 4. Median patient age at assessment was 26.8 years, the number of assessments per patient ranged from 1 to 6. Baseline muscle strength and motor function scores differed significantly between SMA types, but annual rates of decline were largely similar and mostly linear. HFMSE floor effects were present for all patients with SMA type 1c, and adolescents and adults with types 2 and 3a. CMAPMAX differed significantly between SMA types but did not decline significantly with increasing age. Muscle strength correlated very strongly with motor function (τ ≥ 0.8) but only moderately with CMAPMAX (τ ≈ 0.5–0.6).ConclusionMuscle strength and motor function decline in older patients with SMA are constant without periods of slower progression or a plateau phase. The floor effects of the HFMSE preclude its use for long-term follow-up of adult patients with SMA types 1c through 3a. Muscle strength sum scores represent an alternative, feasible outcome measure for adolescent and adult patients with SMA.

Motor function-muscle strength relationship in spinal muscular atrophy

2004 ◽  
Vol 29 (4) ◽  
pp. 548-552 ◽  
Author(s):  
Luciano Merlini ◽  
Enrico Bertini ◽  
Carlo Minetti ◽  
Tiziana Mongini ◽  
Lucia Morandi ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Strength Relationship

Correlates of fatigability in patients with spinal muscular atrophy

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011230
Author(s):  
Bart Bartels ◽  
Janke F. de Groot ◽  
Laura E. Habets ◽  
Renske I. Wadman ◽  
Fay-Lynn Asselman ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Neuromuscular Junction ◽  
Spinal Muscular Atrophy ◽  
Ulnar Nerve ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Short Form ◽  
Drop Out ◽  
Cox Regression Analysis ◽  
Sum Score

ObjectiveTo determine the associations between fatigability and muscle strength, motor function, neuromuscular junction (NMJ) function and perceived fatigue in spinal muscular atrophy (SMA) we assessed 61 patient with SMA.MethodsFatigability was defined as the inability to continue a 20-minute submaximal repetitive task of either walking or proximal- or distal arm function and expressed as ‘drop-out’ on the Endurance Shuttle Test Combined Score (ESTCS). We assessed muscle strength with the MRC sum score, motor function with the Hammersmith Functional Motor Scale Expanded (HFMSE) and Motor Function Measure (MFM), NMJ-function with repetitive nerve stimulation of the accessory- and ulnar nerve and perceived fatigue with the PROMIS fatigue short form questionnaire in 61 children and adults with SMA types 2–4. We applied Cox regression analysis to explore the associations between fatigability and these factors.ResultsThe hazard of drop-out on the ESTCS decreased with respectively 0.8%, 2% and 1.3% for each point increase in the MRC sum score, the HFMSE score and the MFM percentual score. However, we observed prominent fatigability with preserved muscle function and vice versa in 13%–16% of patients. We did not find an association between neuromuscular junction dysfunction of the accessory- (p = 0.37) and ulnar nerve (p = 0.063) and fatigability, which could be due to a large number of missing values. Perceived fatigue in SMA was comparable to reference values and was not associated with fatigability (p = 0.52).ConclusionsFatigability in SMA is associated with, yet not equivalent to muscle strength and motor function.

scholarly journals Physical Therapy for Type III Spinal Muscular Atrophy in a Uyghur Pedigree

2021 ◽  
Author(s):  
yangyang wang ◽  
Jing Ma ◽  
Chunli Li ◽  
Hai Xu ◽  
Jiejun Chi ◽  
...  
Keyword(s):  
Physical Therapy ◽  
Muscle Strength ◽  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Exercise Program ◽  
Proximal Muscle ◽  
Training Exercise ◽  
Type Iii ◽  
Progressive Resistance

Abstract Background: Spinal muscular atrophy (SMA) is a genetically determined neuromuscular disease with predominantly proximal muscle atrophy and weakness caused by degeneration of lower motor neurons in the central nervous system. SMN1 is recognized as an SMA causing gene. The SMN2 copy numbers was assessed for SMA severity. Multiple ligation-dependent probe amplification (MLPA) technique allows to confirm the diagnosis of SMA. The clinical spectrum in affected individuals varies widely from severe generalized weakness (SMA types I and II) to modest proximal muscle weakness (SMA types III and IV). Most patients with SMA have reduced muscle strength and physical dysfunction more or less. Preliminary evidence in people with SMA and in SMA animal models suggests exercise has potential benefits in improving or stabilizing muscle strength and motor function. Physical therapy (PT) in the case with SMA type III to assess the effects.Methods: MLPA was carried out in a family with maternal consanguineous marriage. We evaluated feasibility, safety, and effects on strength and motor function of a supervised progressive resistance strength training exercise program in the children with SMA types III.Results: A SMA III pedigree from the Uyghur population was found a homozygous deletion of SMN1 exon 7 and exon 8. Numbers of SMN2 were 4 copies in them. The proband’s son is well tolerated to physical training. PT training is benefical to his physical function and yet improvement in fatigue and muscle strength gets limited.Conclusions: A two sessions supervised, 3 days/week progressive resistance training exercise program is feasible, safe, and well tolerated in children with SMA III.

scholarly journals Evaluation of Metabolic Effects of Nusinersen in Patients with Spinal Muscular Atrophy

2021 ◽  
Author(s):  
Lena-Luise Becker ◽  
Claudia Weiss ◽  
René Günther ◽  
Andreas Hermann ◽  
Manuela Theophil ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Metabolic Effects ◽  
Height Velocity ◽  
Multicentric Study ◽  
Specific Effects ◽  
Altered Glucose ◽  
Clinically Significant ◽  
Few Data

AbstractNusinersen is the first disease-modifying therapy for spinal muscular atrophy (SMA), but there are few data on potential long-term endocrinological and metabolic systemic effects of this novel treatment as well as metabolic alterations in SMA itself. In this retrospective and multicentric study, we analyzed anthropometric, endocrinological, and motor function data of 81 pediatric and adult patients with SMA1 to 3 undergoing treatment with nusinersen. In 39 patients (51%), we observed a slight increase in body mass index (BMI) centiles under treatment with nusinersen, especially in patients with SMA2 and in pediatric patients between 3.1 and 12 years. A correlation to the SMN2 copy number or motor function was not found. Additionally, length centiles decreased significantly under treatment. The results of longitudinal endocrinological assessments were interpreted as not clinically significant in most patients; in three patients, the signs of an altered glucose metabolism were present. Our study indicates a putative effect of treatment with nusinersen on BMI, which might be due to a conjoint effect of weight gain and reduction of height velocity, without evidence of correlation to increased muscle function. Further studies need to address specific effects of targeted therapies such as nusinersen or onasemnogene abeparvovec on body composition including fat and muscle mass.

scholarly journals Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers’ perspective: a two-part study

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tina Duong ◽  
Jessica Braid ◽  
Hannah Staunton ◽  
Aurelie Barriere ◽  
Fani Petridis ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Online Survey ◽  
Muscular Atrophy ◽  
Qualitative Interviews ◽  
Functional Abilities ◽  
Type 3 ◽  
The Relationship ◽  
Function Measure

Abstract Background The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrophy (SMA). This two-part study explored the relationship between the functional abilities assessed in the MFM32 and activities of daily living (ADLs) from the perspective of individuals with Type 2 and Type 3 (non-ambulant and ambulant) SMA and their caregivers through qualitative interviews and a quantitative online survey. Methods In-depth, semi-structured, qualitative interviews were conducted with individuals with SMA and caregivers from the US. Subsequently, a quantitative online survey was completed by individuals with SMA or their caregivers from France, Germany, Italy, Poland, Spain, Canada, the United States (US) and the UK. In both parts of the study, participants were asked to describe the ADLs considered to be related to the functional abilities assessed in the MFM32. Results from the qualitative interviews informed the content of the quantitative online survey. Results Qualitative interviews were conducted with 15 adult participants, and 217 participants completed the quantitative online survey. From the qualitative interviews, all of the functional abilities assessed in the patient-friendly MFM32 were deemed as related to one or more ADL. The specific ADLs that participants considered related to the patient-friendly MFM32 items could be grouped into 10 key ADL domains: dressing, mobility/transferring, self-care, self-feeding, reaching, picking up and holding objects, physical activity, writing and technology use, social contact/engagement, toileting and performing work/school activities. These results were confirmed by the quantitative online survey whereby the ADLs reported to be related to each patient-friendly MFM32 item were consistent and could be grouped into the same 10 ADL domains. Conclusion This study provides in-depth evidence from the patient/caregiver perspective supporting the relevance of the patient-friendly MFM32 items to the ADLs of individuals with Type 2 and Type 3 SMA.

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