Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy

Abstract

Objective: To delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature.Methods: Relevant, peer-reviewed research articles were identified using a literature search of the MEDLINE, EMBASE, and Scopus databases. Diagnostic and therapeutic data from these articles were extracted and analyzed in accordance with the American Academy of Neurology classification of evidence schemes for diagnostic, prognostic, and therapeutic studies. Recommendations were linked to the strength of the evidence, other related literature, and general principles of care.Results: The geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic testing can confirm some subtype-specific diagnoses, but not all causative genes for CMD have been described. Seizures and respiratory complications occur in specific subtypes. There is insufficient evidence to determine the efficacy of various treatment interventions to optimize respiratory, orthopedic, and nutritional outcomes, and more data are needed regarding complications. Recommendations: Multidisciplinary care by experienced teams is important for diagnosing andpromoting the health of children with CMD. Accurate assessment of clinical presentations and genetic data will help in identifying the correct subtype-specific diagnosis in many cases. Multiorgan system complications occur frequently; surveillance and prompt interventions are likely to be beneficial for affected children. More research is needed to fill gaps in knowledge regarding this category of muscular dystrophies. Neurology ® 2015;84:1369-1378 GLOSSARY AAN 5 American Academy of Neurology; AANEM 5 American Association of Neuromuscular & Electrodiagnostic Medicine; B3GALNT2 5 b-1,3-N-acetylgalactosaminyltransferase 2; B3GNT1 5 b-1,3-N-acetylglucosaminyltransferase 1; CK 5 creatine kinase; CMD 5 congenital muscular dystrophy; COL6A1 5 collagen 6a1; COL6A2 5 collagen 6a2; COL6A3 5 collagen 6a3; DAG1 5 a-dystroglycan; FKTN 5 fukutin; GMPPB 5 GDP-mannose pyrophosphorylase B; LAMA2 5 laminin a2; LMNA 5 lamin A/C; MD 5 muscular dystrophy; MDC 5 merosin-deficient congenital muscular dystrophy; SEPN1 5 selenoprotein 1; SGK196 5 protein-O-mannose kinase; TMEM5 5 TMEM5.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

“…1,2 Multiple forms of CMDs are also associated with cerebral and ocular phenotypes, suggesting common mechanisms affecting development of the muscle, brain, and eye. For these syndromic forms, gene identification studies have primarily pointed to a molecular mechanism involving interactions between cells and the surrounding extracellular matrix (ECM).…”

Muskelsykdommer med debut i barnealder

“…Symptomer er oftest til stede ved fødselen eller melder seg i løpet av de første månedene ved kongenitte muskeldystrofier, men iblant noe senere. Noen av disse innebaerer alvorlig affeksjon også av hjerne og øyne (13).…”

Quality improvement in neurology

“…Disease severity, rate of progression, medical complications, and life expectancy vary significantly with the type of MD. [10][11][12] Impact of MD on health-related quality of life. Quality of life (QoL) studies in MD are sparse.…”

“…A multidisciplinary care model with a network of providers is also endorsed by the Muscular Dystrophy Association. 10,12,24,25 Pulmonary evaluation. Many MDs are associated with pulmonary complications.…”

“…Many MDs are associated with pulmonary complications. 10,12 Impending respiratory failure may not be preceded by symptoms, and may only be identified by pulmonary function testing. Respiratory failure is a major source of morbidity, interfering with cognitive function and negatively affecting QoL.…”