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

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.

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Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy

Archives of Neurology ◽

10.1001/archneur.65.9.1196 ◽

2008 ◽

Vol 65 (9) ◽

Cited By ~ 36

Author(s):

Marie-Louise Sveen ◽

Jens Jakob Thune ◽

Lars Køber ◽

John Vissing

Keyword(s):

Muscular Dystrophy ◽

Cardiac Involvement ◽

Becker Muscular Dystrophy ◽

Limb Girdle Muscular Dystrophy

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

Neuromuscular Disorders ◽

10.1016/0960-8966(91)90024-m ◽

1991 ◽

Vol 1 (3) ◽

pp. 195-200 ◽

Cited By ~ 10

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

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Clinicopathologic and molecular profiles of Duchenne and Becker muscular dystrophy

Paediatrica Indonesiana ◽

10.14238/pi59.5.2019.257-64 ◽

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.

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