P.P.4 07 Phenotype and muscle biopsy findings in the first German patient with limb-girdle muscular dystrophy 2K – Important differential diagnosis of Becker muscular dystrophy

2006 ◽  
Vol 16 (9-10) ◽  
pp. 680
Author(s):  
U. Schara ◽  
W. Kress ◽  
M. Vorgerd ◽  
C. Gross ◽  
J. Winkler ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Becker Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
German Patient ◽  
Important Differential Diagnosis

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.

Becker muscular dystrophy or spinal muscular atrophy?—Dystrophin studies resolve conflicting results of electromyography and muscle biopsy

1991 ◽  
Vol 1 (3) ◽  
pp. 195-200 ◽  
Author(s):  
Thomas D. McDonald ◽  
Rossella Medori ◽  
David S. Younger ◽  
Hai W. Chang ◽  
Carlo Minetti ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Spinal Muscular Atrophy ◽  
Muscle Biopsy ◽  
Muscular Atrophy ◽  
Becker Muscular Dystrophy

scholarly journals Clinicopathologic and molecular profiles of Duchenne and Becker muscular dystrophy

2019 ◽  
Vol 59 (5) ◽  
pp. 257-64
Author(s):  
Ery Kus Dwianingsih ◽  
Meydita Fuzia Putri Insani ◽  
Linda Pratiwi ◽  
Irianiwati Widodo ◽  
Rusdy Ghazali Malueka
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Clinical Manifestations ◽  
Becker Muscular Dystrophy ◽  
High Serum ◽  
Molecular Profile ◽  
Molecular Profiles ◽  
Weak Expression ◽  
Dmd Gene ◽  
Histopathological Grading

Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic X-linked recessive diseases caused by mutations in the dystrophin (DMD) gene. To our knowledge, molecular analysis to differentiate between DMD and BMD has never been performed in Indonesia. Objective To elaborate the clinicopathologic and molecular profiles of DMD/BMD patients in Yogyakarta, Indonesia. Methods Eighteen muscle biopsy specimens of patients clinically suspected to have DMD/BMD were collected. Possible associations of clinical manifestations, histopathological grading, and immunohistochemistry (IHC) results were analyzed. Polymerase chain reaction (PCR) was performed to identify mutations in exon 52. Results. Positive Gower’s sign and high serum creatine kinase (CK) were observed in most patients. The IHC of dystrophin in two female patients suggested that they were manifesting carriers. Of the 16 male patients, 12 showed negative IHC staining, indicating DMD, while 4 patients demonstrated weak expression of dystrophin, indicating BMD. There was a significant association between high CK level and IHC results (P=0.005), indicating higher CK level in DMD patients. Histopathological grading of muscle biopsy was significantly associated with diagnosis of DMD/BMD using IHC (P=0.01), showing more severe tissue damage in DMD patients. None of the subjects had the single exon 52 deletion. Conclusion This is the first report of a clinicopathologic and molecular profile of DMD/BMD in an Indonesian population. Serum CK level and histopathological grading of muscle biopsy are useful in distinguishing DMD from BMD in settings where an IHC assay is not available.

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

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 LIMB-GIRDLE MUSCULAR DYSTROPHY AS A DIFFERENTIAL DIAGNOSIS IN PATIENT PRESENTING WITH WEAKNESS AND ELEVATION OF MUSCULAR ENZYMES OF CHRONIC EVOLUTION: A CASE REPORT

2019 ◽  
Author(s):  
FLÁVIO RIBEIRO PEREIRA ◽  
JANNINE FARIAS BELLINI LEITE ◽  
ISABELLA MATIAS RIBEIRO ◽  
FERNANDA MARVILA FAGUNDES LAMARCA ◽  
NATÁLIA MIRANDA GAVA ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy

Does a normal dystrophin staining in muscle biopsy rule out the molecular diagnosis of Duchenne/Becker muscular dystrophy?

2017 ◽  
Vol 21 ◽  
pp. e235
Author(s):  
Mira Ginzberg ◽  
Tally Lerman-Sagie ◽  
Menachem Sadeh ◽  
Ron Dabby ◽  
Esther Leshinsky-Silver ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Molecular Diagnosis ◽  
Muscle Biopsy ◽  
Becker Muscular Dystrophy ◽  
Rule Out

Differentiation of Becker muscular dystrophy from limb‐girdle muscular dystrophy and Kugelberg‐Welander disease using a cDNA probe

1990 ◽  
Vol 152 (5) ◽  
pp. 270-271 ◽  
Author(s):  
Nigel C. Laing ◽  
Margaret E. Mears ◽  
Helen E. Thomas ◽  
David C. Chandler ◽  
Maria G. Layton ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cdna Probe ◽  
Becker Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy
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