title: Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
abstract: 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.
authors.affiliation: Departamento de Patologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Ana
authors.initials: A
authors.lastname: Cotta
authors.affiliation: Departamento de Neurofisiologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Elmano
authors.initials: E
authors.lastname: Carvalho
authors.affiliation: Departamento de Radiologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Antonio Lopes
authors.initials: AL
authors.lastname: da-Cunha-Júnior
authors.affiliation: Departamento de Patologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Júlia Filardi
authors.initials: JF
authors.lastname: Paim
authors.affiliation: Departamento de Pediatria, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Monica M
authors.initials: MM
authors.lastname: Navarro
authors.affiliation: Departamento de Neurofisiologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Jaquelin
authors.initials: J
authors.lastname: Valicek
authors.affiliation: Departamento de Neurologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Miriam Melo
authors.initials: MM
authors.lastname: Menezes
authors.affiliation: Departamento de Neurologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Simone Vilela
authors.initials: SV
authors.lastname: Nunes
authors.affiliation: Departamento de Neurologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Rafael
authors.initials: R
authors.lastname: Xavier Neto
authors.affiliation: Departamento de Biologia Molecular, Rede SARAH de Hospitais de Reabilitação, Brasília DF, Brazil.
authors.forename: Reinaldo Issao
authors.initials: RI
authors.lastname: Takata
authors.affiliation: Departamento de Neurologia, Rede SARAH de Hospitais de Reabilitação, Brazil.
authors.forename: Antonio Pedro
authors.initials: AP
authors.lastname: Vargas
mesh_terms: D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008488:Medical Illustration; D009132:Muscles / Q000000981:diagnostic imaging / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography