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Muscle strength and motor function throughout life in a cross‐sectional cohort of 180 patients with spinal muscular atrophy types 1c–4
Author(s) -
Wadman R. I.,
Wijngaarde C. A.,
Stam M.,
Bartels B.,
Otto L. A. M.,
Lemmink H. H.,
Schoenmakers M. A. G. C.,
Cuppen I.,
Berg L. H.,
Pol W. L.
Publication year - 2018
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.13534
Subject(s) - sma* , medicine , spinal muscular atrophy , physical medicine and rehabilitation , weakness , muscle weakness , cross sectional study , physical therapy , toddler , disease , surgery , psychology , pathology , developmental psychology , mathematics , combinatorics
Background and purpose Natural history studies in spinal muscular atrophy ( SMA ) have primarily focused on infants and children. Natural history studies encompassing all age groups and SMA types are important for the interpretation of treatment effects of recently introduced survival motor neuron gene‐augmenting therapies. Methods We conducted a cross‐sectional study to investigate muscle strength, Hammersmith Functional Motor Scale (Expanded) score and the patterns of muscle weakness in relation to age and SMA type. Results We included 180 patients with SMA types 1–4 in the age range 1–77.5 years with median disease duration of 18 (range 0–65.8) years. With the exception of the early phases of disease in which children with SMA types 2 and 3 may achieve new motor skills and show a temporary increase in muscle strength, cross‐sectional data suggested that declining muscle strength and loss of motor skills over time are characteristic of all SMA types. Mean loss of strength was at least 1 point on the Medical Research Council score and 0.5 point on the Hammersmith Functional Motor Scale (Expanded) score per year. Trend lines compatible with deterioration of motor function and muscle strength started in childhood and continued into adulthood. The age at loss of specific motor skills was associated with disease severity. Triceps, deltoid, iliopsoas and quadriceps were the weakest muscles in all patients. Hierarchical cluster analysis did not show a segmental distribution of muscle weakness as suggested previously. Conclusions Progressive muscle weakness and loss of motor function are characteristic of all SMA types and all ages.