Motoneuron diseases cause paralysis and death due to loss of motoneurons that innervate skeletal muscle. Spinal muscular atrophy is a human motoneuron disease that is genetically linked to the survival motor neuron gene (SMN). Although SMN was identified more than a decade ago, it remains unclear how decreased levels of the SMN protein cause spinal muscular atrophy. The use of animal models, ho...

Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH,...

BACKGROUND Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscu...

Spinal and bulbar muscular atrophy is an X-linked degenerative motor neuron disease caused by an abnormal expansion in the polyglutamine encoding CAG repeat of the androgen receptor gene. There is evidence implicating endoplasmic reticulum stress in the development and progression of neurodegenerative disease, including polyglutamine disorders such as Huntington's disease and in motor neuron di...

Abstract Background Spinal muscular atrophy (SMA) is an autosomal-recessive disorder that manifests in paralysis and skeletal muscle weaknesses. This neuromuscular problem caused by degeneration of the spinal cord anterior horn cells. Main body abstract SMA leads to a decreased motoric function affects patients’ daily activity eventually induces psychological burden. Given increasing burden pat...

Test code: NE1801 The Blueprint Genetics Spinal Muscular Atrophy Panel is a 27 gene test for genetic diagnostics of patients with clinical suspicion of distal hereditary motor neuropathy or spinal muscular atrophy. Spinal muscular atrophies (SMAs) are inherited in an autosomal dominant, autosomal recessive or X-linked manner. In addition to deletion or gene conversion of SMN1 and copy number va...

Pearn, J. H., and Wilson, J. (1973). Archives of Disease in Childhood, 48, 768. Chronic generalized spinal muscular atrophy of infancy and childhood: arrested Werdnig-Hoffmann disease. Recent studies have shown that the acute fatal form of infantile spinal muscular atrophy (acute Werdnig-Hoffmann disease or spinal muscular atrophy Type I) is a distinct genetic and clinical entity. This has prom...

Anaesthetic management of an infant with spinal muscular atrophy [Type 1] for fundoplication and feeding gastrostomy - IJCA- Print ISSN No: 2394-4781 Online No:- 2394-4994 Article DOI 10.18231/j.ijca.2023.044, Indian Journal Clinical Anaesthesia-Indian J Clin Anaesth

OBJECTIVE To measure muscle strength in patients with spinal muscular atrophy using a handheld dynamometer as an objective tool to evaluate the progression of disease and the outcome of therapeutic trials. DESIGN Maximum voluntary isometric contraction was measured in a group of 24 patients aged 5-38 years with types II and III spinal muscular atrophy. Four muscle groups were examined. Data w...

? Multiple Choice Questions Section The Neuroscience Journal introduces this new section on multiple choice questions as part of its commitment to continuous education and learning in Neurosciences. Experts in various neuroscience specialties are invited to participate with their knowledge and expertise in this section. Neurology, neurosurgery, and other board residents are encouraged to read t...