Prevalence, incidence and carrier frequency of 5q –linked spinal muscular atrophy – a literature review

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable prese...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research

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Authors: Laforgia M, Calabrò C, Scattone A, Laface C, Porcelli M, Gadaleta CD, Nardulli P, Ranieri G Abstract Introduction: Mast cell leukemia (MCL) is one of the most aggressive forms of Systemic Mastocytosis (SM), a complex family of rare diseases, for which standard therapies are very few. MCL represents only
Source: Expert Opinion on Pharmacotherapy - Category: Drugs & Pharmacology Tags: Expert Opin Pharmacother Source Type: research
Authors: Quaglino F, Manfrino L, Cestino L, Giusti M, Mazza E, Piovesan A, Palestini N, Lauro C, Castellano E Abstract Parathyroid carcinoma (PC) is a rare disease responsible for about 1% of primary hyperparathyroidism (PHPT) cases. PC usually has an indolent course, tough to differentiate from the benign causes of PHPT, and the only certain diagnosis is histologic. The gold standard surgical treatment is the en bloc resection associated with the homolateral thyroid loboistmectomy. The aim of this study was to underline the main differences between PC and benign PHPT, along with gathering epidemiological knowledge...
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
Abstract Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome. Clear cell chondrosarcoma (CCCS) is a rare variant of chondrosarcoma. Here, we report a case of CCCS in the talus occurring in a patient with VHL disease. A 32-year-old man presented with ankle pain for 2 years. MRI revealed a 4.2 cm mass in the talus, and needle biopsy was performed. The patient underwent curettage but the final diagnosis was CCCS. Adjuvant radiation therapy was performed without additional talectomy and the patient was alive without recurrence for a follow-up period of 2 years. To our knowledge, this is t...
Source: International Journal of Clinical and Experimental Pathology - Category: Pathology Authors: Tags: Int J Clin Exp Pathol Source Type: research
Zolgensma is a gene therapy that addresses the genetic root cause of spinal muscular atrophy by replacing the defective or missing SMN1 gene to halt disease progression.International Approvals
Source: Medscape Neurology and Neurosurgery Headlines - Category: Neurology Tags: Neurology & Neurosurgery News Alert Source Type: news
             Basel, 23 January 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced positive topline results from the pivotal Part 2 of the FIREFISH study, evaluating risdiplam in infants aged 1-7 months with Type 1 spinal muscular atrophy (SMA). The primary outcome measure of the study was the proportion of infants sitting without support for at least five seconds at 12-months of treatment, assessed by the Gross Motor Scale of the Bayley Scales of Infant and Toddler Development Third Edition (BSID-III). Safety for risdiplam in the FIREFISH study was con...
Source: Roche Media News - Category: Pharmaceuticals Source Type: news
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Spinal muscular atrophy (SMA) is a rare, hereditary, autosomal recessive neuromuscular disorder caused by deletion of the survival motor neuron 1 gene (SMN1). Type I SMA is one of the most severe forms of SMA that affects infants between 0-6 months of age where they never develop the ability to sit and have a short life expectancy. Nusinersen is the first approved treatment for SMA, and prior management of the disease centred on the symptomatic treatment of respiratory, nutritional, and orthopaedic function decline.
Source: Value in Health - Category: International Medicine & Public Health Authors: Source Type: research
Authors: Verschueren A Abstract Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic ...
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearl...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
Spinal muscular atrophy (SMA) is one of the most common rare diseases with 1 in 10,000 people worldwide affected. It is an autosomal-recessive disorder caused by mutations in the survival motor neuron 1 gene (SMN1) leading to motor neuron degeneration. Clinically, SMA manifests in various ranges of severity including progressive muscle weakness and loss of motor function. Several therapeutic strategies, including modulation of SMN2 splicing and SMN1 replacement by gene therapy, are currently under investigation.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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