Spinal muscular atrophy: A (now) treatable neurodegenerative disease
A Fay - Pediatric Clinics, 2023 - pediatric.theclinics.com
Spinal muscular atrophy (SMA) is an autosomal recessive disease of the motor neurons,
beginning most commonly in infancy, with a wide range of severity, whose devastating …
beginning most commonly in infancy, with a wide range of severity, whose devastating …
Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?
E Abati, E Mauri, M Rimoldi, B Madini, F Patria… - Frontiers in …, 2024 - frontiersin.org
Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by
progressive muscle weakness and atrophy, resulting from the degeneration of motor …
progressive muscle weakness and atrophy, resulting from the degeneration of motor …
The association between the respiratory system and upper limb strength in males with Duchenne muscular dystrophy: a new field for intervention?
A Sobierajska-Rek, E Wasilewska… - International Journal of …, 2022 - mdpi.com
Progressive, irreversible muscle weakness is the leading symptom of Duchenne muscular
dystrophy (DMD), often resulting in death from respiratory muscle failure. Little is known …
dystrophy (DMD), often resulting in death from respiratory muscle failure. Little is known …
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)
Y Martí, V Aponte Ribero, S Batson… - Journal of …, 2024 - content.iospress.com
Background: Respiratory and bulbar dysfunctions (including swallowing, feeding, and
speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most …
speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most …
Assessment of the upper limb function, strength, and mobility in treatment‐naive children with spinal muscular atrophy Types 2 and 3
Abstract Introduction/Aims Current upper limb assessments in pediatric spinal muscular
atrophy (SMA) may not adequately capture change with disease progression. Our aim was …
atrophy (SMA) may not adequately capture change with disease progression. Our aim was …
Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy
A Bieniaszewska, M Sobieska, B Steinborn… - Biomedicines, 2023 - mdpi.com
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by the deletion
or/and mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5. Until now …
or/and mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5. Until now …
Impact of Wheelchair Seating Systems on Scoliosis Progression for Children With Neurologic and Neuromuscular Disorders: A Retrospective Study Of Custom …
J Hosking - Archives of Physical Medicine and Rehabilitation, 2024 - Elsevier
Objectives To retrospectively evaluate the comparative effect of 2 wheelchair seating
systems, Custom-Contoured Wheelchair Seating (CCS) and Modular Wheelchair Seating …
systems, Custom-Contoured Wheelchair Seating (CCS) and Modular Wheelchair Seating …
Secondary outcomes of scoliosis surgery in disease‐modifying treatment‐naïve patients with spinal muscular atrophy type 2 and nonambulant type 3
C Brusa, G Baranello, D Ridout, J de Graaf… - Muscle & … - Wiley Online Library
Abstract Introduction/Aims Available studies on scoliosis surgery in spinal muscular atrophy
(SMA) have focused on the primary outcome of the procedure—the correction of the curve …
(SMA) have focused on the primary outcome of the procedure—the correction of the curve …