The authors describe a familial form of childhood spinal amyotrophy. Among 7 patients in the M. family, 5 were diagnosed to suffer from type II spinal amyotrophy and 2 from type III. It is of interest to mention that type II was observed only in boys whereas type III in girls. The data of the clinical and electromyographic examination of two M. siblings of male and female sexes have been analyzed. Possible mechanisms of the clinical polymorphism of childhood spinal amyotrophy are under discussion.
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Asian Pac Isl Nurs J
January 2025
Nursing Care Research Center, Clinical Sciences Institute, Nursing Faculty, Baqiyatallah University of Medical Sciences, Vanak Square, Tehran, Iran, 98 9127297199.
Background: Neuromuscular disorders (NMDs) constitute a heterogeneous group of disorders that affect motor neurons, neuromuscular junctions, and muscle fibers, resulting in symptoms such as muscle weakness, fatigue, and reduced mobility. These conditions significantly affect patients' quality of life and impose a substantial burden on caregivers. Spinal muscular atrophy (SMA) is a relatively common NMD in children that presents in various types with varying degrees of severity.
View Article and Find Full Text PDFAmyotroph Lateral Scler Frontotemporal Degener
January 2025
2nd Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.
Motor Neuron Diseases (MNDs), familial and sporadic, are progressive neurodegenerative disorders that, for an extended period in the past, were considered purely motor disorders. During the course of the disease, however, some patients exhibit concomitant non-motor signs; thus, MNDs are currently perceived as multisystem disorders. Assessment of non-motor symptoms is usually performed clinically, although laboratory tests can also be routinely used to objectively evaluate these symptoms.
View Article and Find Full Text PDFPhys Ther Res
October 2024
Department of Physical Therapy, Faculty of Health and Medical Care, Saitama Medical University, Japan.
Objective: In this study, we aimed to determine the effects of 2-week neuromuscular electrical stimulation (NMES) on quadriceps muscle atrophy and lower extremity motor score in individuals with subacute incomplete cervical spinal cord injury (SCI).
Methods: This stratified randomized controlled trial, conducted in the advanced critical care center of a university hospital, comprised 49 individuals with American Spinal Injury Association (ASIA) impairment scale grade C and D incomplete cervical SCI. The participants were stratified based on the ASIA impairment scale grade and randomly assigned to the control (n = 25) or NMES (n = 24) group.
Neuromuscul Disord
December 2024
Pharma Personalized Healthcare, F. Hoffmann-La Roche Ltd, Basel, Switzerland.
The severity of spinal muscular atrophy (SMA) is inversely correlated with the number of survival of motor neuron 2 (SMN2) copies an individual has. This observational, retrospective analysis of natural history data included untreated individuals with a genetic diagnosis of types 1-3 SMA and stratified disease-related characteristics by SMN2 copy number. The outcomes investigated were time to: death, permanent ventilation, respiratory support, feeding support, scoliosis surgery, and achievement and loss of motor milestones.
View Article and Find Full Text PDFHealthcare (Basel)
January 2025
Department of Pharmacy Administration and Clinical Pharmacy, School of Pharmacy, Xi'an Jiaotong University, 76 Yanta West Road, Xi'an 710061, China.
Spinal muscular atrophy is a rare genetic disease. Nusinersen and Risdiplam, recognized as disease-modifying therapies, were included in the National Reimbursement Drug List in 2022 and 2023, respectively, in China. Policies have been implemented to enhance a multi-level medical security system, particularly for rare diseases.
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