Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I

2014 ◽  
Vol 103 (5) ◽  
pp. 553-558 ◽  
Author(s):  
Magnhild Rasmussen ◽  
David Scheie ◽  
Noralv Breivik ◽  
Marit Mork ◽  
Sigurd Lindal
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Limb Girdle Muscular Dystrophy ◽  
Paediatric Patients

scholarly journals Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

2014 ◽  
Vol 72 (9) ◽  
pp. 721-734 ◽  
Author(s):  
Ana Cotta ◽  
Elmano Carvalho ◽  
Antonio Lopes da-Cunha-Júnior ◽  
Júlia Filardi Paim ◽  
Monica M. Navarro ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Neuromuscular Disorders ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscular Dystrophies ◽  
Muscle Involvement ◽  
Respiratory Management ◽  
Diagnostic Flowchart ◽  
And Function

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.

Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy

2020 ◽  
Vol 72 ◽  
pp. 471-473 ◽  
Author(s):  
Miguel Oliveira Santos ◽  
Pedro Coelho ◽  
Rafael Roque ◽  
Isabel Conceição
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Late Onset ◽  
Limb Girdle Muscular Dystrophy ◽  
Normal Muscle

scholarly journals Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I

2013 ◽  
Vol 40 (6) ◽  
pp. 875-877
Author(s):  
H.J. McMillan ◽  
J. Michaud
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Clinical Symptoms ◽  
Limb Girdle Muscular Dystrophy ◽  
Muscle Fibres ◽  
Genetic Sequencing ◽  
Clinical Onset ◽  
Inflammatory Infiltrates ◽  
Inflammatory Changes ◽  
Post Infectious

Muscular dystrophies can show clinical and muscle biopsy features that mimic or overlap the changes seen in a primary myositis, particularly in the early stages of disease or when the clinical onset is abrupt. We present a child who was eventually diagnosed with limb girdle muscular dystrophy type 2I (LGMD2i). she presented with mild hip-girdle weakness and post-infectious myalgia. although her clinical symptoms favoured a muscular dystrophy, her muscle biopsy showed inflammatory infiltrates within muscle fibres and around blood vessels that were more typical of juvenile polymyositis. additional immunocytochemical antibody tests and genetic sequencing were key to obtaining an accurate diagnosis and avoiding immunosuppressant therapy.

scholarly journals A Novel Mutation in a Large French-Canadian Family with LGMD1B

2008 ◽  
Vol 35 (3) ◽  
pp. 331-334 ◽  
Author(s):  
Nicolas Chrestian ◽  
Paul N. Valdmanis ◽  
Najmeddine Echahidi ◽  
Denis Brunet ◽  
Jean-Pierre Bouchard ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Pacemaker Implantation ◽  
Limb Girdle Muscular Dystrophy ◽  
Cardiac Conduction ◽  
Cardiac Complications ◽  
French Canadian ◽  
New Mutation ◽  
Muscle Involvement ◽  
Phenotypic Spectrum

ABSTRACTBackground:Limb girdle muscular dystrophy type 1B is an autosomal dominant disease characterized by late onset proximal muscle involvement associated with cardiac complications such as atrioventricular conduction blocks, dilated cardiomyopathy, and sudden death.Objective:Define the full phenotypic spectrum of a new mutation in the LMNA gene causing limb girdle muscular dystrophy type 1B.Methods:We identified a large French Canadian family with the LGMD 1B phenotype and a cardiac conduction disease phenotype that carried a new mutation in the LMNA gene and sought to define its full phenotypic spectrum by performing complete neurological and cardiac evaluations, muscle biopsy, RNA and DNA studies.Results:The proband and 12 living at risk relatives were tested. In total, we identified seven carriers of a new (IVS9-3C>G) LMNA gene mutation. Of the three symptomatic patients, all had cardiac involvement, but only two presented proximal limb weakness. The one available muscle biopsy demonstrated a normally expressed lamin A/C protein, localized at the nuclear envelope. RNA study revealed a loss of exon 10 transcription caused by the IVS9-3C to G splicing mutation.Conclusions:We have identified a new mutations in the LMNA gene in a French-Canadian family. This diagnosis has important implications for affected patients and their siblings since they may eventually require pacemaker implantation.

Sign in / Sign up

Export Citation Format

Share Document