Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies

Abstract

Objective: To review the current evidence and make practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs).Methods: Systematic review and practice recommendation development using the American Academy of Neurology guideline development process.

En mann i 50-årene med proksimal kraftsvikt og hjertesykdom

“…En rekke skulder-hofte-muskeldystrofier gir økt risiko for affeksjon av hjertemuskel eller arytmier (8). Skulder-hofte-muskeldystrofi 2I forekommer hyppigere i Nord-Europa, inklusive Norge, enn ellers i verden (9).…”

“…For de aller fleste arvelige nevromuskulaere tilstander finnes ingen spesifikk behandling mot prosessene i muskler eller nerver (1,3,8). Dette gjelder også muskeldystrofier som skyldes mutasjoner i LMNA-genet.…”

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.…”

Diagnosis of limb-girdle muscular dystrophies in the molecular biology era: do clinical findings still matter?

“…The American Academy of Neurology guidelines advocate the use of clinical findings and inheritance pattern to diagnose limb-girdle muscular dystrophies. If the dystrophy has an autosomal recessive inheritance pattern and the patient presents with scapular winging, has normal cardiorespiratory function, does not have calf hypertrophy and is of British, Southern European, Eastern European or Brazilian descent, genetic testing for a calpain-3 (LGMD2A) mutation is recommended as the first diagnostic step 3 . Mutations of the CAPN3 gene and its allelic variants cause calpain-3 deficiency.…”