SciELO - Scientific Electronic Library Online

 
vol.72 issue9The influence of decompressive craniectomy on the development of hydrocephalus: a reviewNeurology in Federico Fellini?s work and life author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Abstract

COTTA, Ana et al. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?. Arq. Neuro-Psiquiatr. [online]. 2014, vol.72, n.9, pp.721-734. ISSN 0004-282X.  http://dx.doi.org/10.1590/0004-282X20140110.

Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.

Keywords : muscular dystrophies; ultrasonography; biopsy; magnetic resonance imaging; neuromuscular diseases.

        · abstract in Portuguese     · text in English     · English ( pdf )