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Diaphragm Ultrasound in Patients with Neuromuscular Disorders
Published in Massimo Zambon, Ultrasound of the Diaphragm and the Respiratory Muscles, 2022
Spinal muscular atrophies (SMA) are neuromuscular disorders in relation to defect in the survival motor neuron (SMN1) gene. The disease is characterized by a progressive degeneration of spinal cord motor neurons and patients disclose weakness and atrophy of skeletal muscles (23). The most severe form is the type 1 SMA that is characterized by weakness, severe hypotonia, swallowing disorders and respiratory failure over the first year of life (24). Ultrasound can be used to assess patients in this disease particularly, SMA patients with acute respiratory distress (25).
The locomotor system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
As muscle fibre function depends on the integrity of the whole motor unit. Disorders that produce lesions in the motor neuron, peripheral motor nerves, and neuromuscular junction may all result in atrophy of the muscle with shrinkage of fibres. Diagnostic problems can arise because these disorders may simulate myopathies, especially dystrophies. Among these are hereditary disorders such as spinal muscular atrophies (SMAs). These fall into three broad categories: severe infantile SMA causing death from respiratory failure in infancy, milder juvenile cases with scoliosis, and adults with a better prognosis. The biopsy appearances (Figure 13.51) depend on the rate and degree of denervation. Initially, atrophic muscle fibres are scattered at random through the fascicles, but later small clusters of tiny fibres can be identified followed by large group atrophy as more neurons fail.
Neuromuscular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The spinal muscular atrophies are a group of anterior horn cell disorders that are distinct from the primary myopathies on clinical, electromyographic, histological and molecular grounds. The great majority of all childhood proximal types follow autosomal recessive inheritance, so that sporadic cases should be counselled as such in terms of risk for sibs, even if it is difficult to assign them to a particular type. More than 95% of cases are allelic, caused by deletions in a specific gene on chromosome 5q (SMN1). Molecular testing can be used for diagnosis (including prenatal diagnosis) and (by dosage) to determine carrier status. The differences in severity arise largely from differences in the number of copies of the neighbouring (and highly homologous) SMN2 gene, of which there is a varying number of copies arranged in cis.
Assessing amyotrophic lateral sclerosis prevalence in Norway from 2009 to 2015 from compulsory nationwide health registers
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018
Ola Nakken, Jonas Christoffer Lindstrøm, Ole-Bjørn Tysnes, Trygve Holmøy
Hospital files from Akershus University Hospital and Haukeland University Hospital were used to validate ALS diagnoses given at hospitals. Together, these hospitals provide neurological services to approximately 20% of the population in Norway. Two authors (ON and OBT) reviewed the hospital files of all patients registered with ICD10 = G12.2 in an outpatient visit or inpatient admission at any department from 1 January 2008 to 31 December 2015. The patient was considered misclassified if not fulfilling the Awaji criteria for possible, probable or definite ALS (11). The identity of all deceased patients identified in this process was sent to NPR to assess the completeness of the registry. We also reviewed hospital files of patients coded as G12.8 and G12.9 (unspecified/other spinal muscular atrophies) to evaluate the specificity of these diagnoses and how often these were reclassified as ALS. Ultimately, to assess whether the diagnostic accuracy in the two university hospitals were representative for the country as a whole, we asked NPR to quantify the number of individuals first coded as G12.8/G12.9 and later as G12.2.
Proteomic serum biomarkers for neuromuscular diseases
Published in Expert Review of Proteomics, 2018
Sandra Murphy, Margit Zweyer, Rustam R. Mundegar, Dieter Swandulla, Kay Ohlendieck
In mature skeletal muscles, the extrafusal fiber population of a distinct motor unit are usually innervated by the axon branches of a single-motor neuron, which represents the basic functional division of muscle contraction. Neuromuscular connections are distributed over a wide area within a muscle ensuring an even spread of contractile force of the motor unit under normal conditions [41]. Motor units join forces for highly coordinated contractions of an individual skeletal muscle and all motor units within a single skeletal muscle are classified as a motor pool. However, this rigid physiological control system and tight cellular arrangement is vulnerable to tissue damage by neuronal degeneration, nerve crush, or traumatic denervation [42]. Long-term denervation triggers progressive muscular atrophy within all affected motor units. This includes the loss of skeletal muscle mass and voluntary function, the collapse of sarcomeric organization, and finally severe fiber degeneration and replacement by connective and fatty tissue [43]. Counteractive to muscular atrophy is the proliferation and activation of satellite cells, and the initiation of neo-myogenesis within the denervated motor unit. A key pathological feature of muscular atrophy is slow-to-fast fiber-type shifting and this is observed to a varying degree in the diverse group of motor neuron diseases. In these neurological conditions, motor neurons are selectively affected and cause amyotrophic lateral sclerosis, spinal muscular atrophies, hereditary spastic paraplegia, primary lateral sclerosis, or progressive pseudo/bulbar palsy [44].
Cardiopulmonary exercise testing in neuromuscular disease: a systematic review
Published in Expert Review of Cardiovascular Therapy, 2021
Gabriela Barroso de Queiroz Davoli, Bart Bartels, Ana Claudia Mattiello-Sverzut, Tim Takken
Following the approach of Bramer et al. [12], we created a systematic search strategy for the databases MEDLINE using the MESH thesaurus terms for ‘NMD’ and ‘CPET.’ NMDs included muscular dystrophies, congenital myopathies, spinal muscular atrophies, amyotrophic lateral sclerosis, post-poliomyelitis, polyneuropathies, Guillain-Barre syndrome and myasthenia gravis. Consecutively, this search strategy was adapted to the databases EMBASE, SCOPUS, and Web of Science. An example of this search strategy is shown in Supplementary Material A.