Author: Kaul, Karen L.; Sabatini, Linda M.; Tsongalis, Gregory J.; Caliendo, Angela M.; Olsen, Randall J.; Ashwood, Edward R.; Bale, Sherri; Benirschke, Robert; Carlow, Dean; Funke, Birgit H.; Grody, Wayne W.; Hayden, Randall T.; Hegde, Madhuri; Lyon, Elaine; Murata, Kazunori; Pessin, Melissa; Press, Richard D.; Thomson, Richard B.
Title: The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care Document date: 2017_7_16
ID: jzwwses4_56
Snippet: Neuromuscular diseases (NMDs) refer collectively to the many disorders that affect the peripheral nervous system, either by impairing the proper development or functioning of muscles or by damaging the associated nerves or neuromuscular junctions. Muscular dystrophies that form the majority of inherited NMDs share clinical, genetic, and pathological characteristics, including muscle degeneration and wasting, progressive muscle weakness, hypotonia.....
Document: Neuromuscular diseases (NMDs) refer collectively to the many disorders that affect the peripheral nervous system, either by impairing the proper development or functioning of muscles or by damaging the associated nerves or neuromuscular junctions. Muscular dystrophies that form the majority of inherited NMDs share clinical, genetic, and pathological characteristics, including muscle degeneration and wasting, progressive muscle weakness, hypotonia, and variably elevated serum creatine kinase levels. Cardiac involvement is often present, accounting for high morbidity and mortality. There are 80 different genetically defined types of muscular dystrophies categorized based on the age of onset, the specific muscles involved, and common characteristic clinical features. [119] [120] [121] [122] Congenital muscular dystrophies and limb-girdle muscular dystrophies are the 2 major subgroups; these are genetically heterogenous, with many new genes being implicated in recent years. Lack of pathognomonic signs or specific biochemical markers and the presence of high phenotypic overlap with other forms of NMDs make diagnosis difficult.
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