Clinical features in a girl with Duchenne muscular dystrophy with an X-autosome translocation; (X;4)(p21;q26)

1986 ◽  
Vol 8 (6) ◽  
pp. 619-623 ◽  
Author(s):  
Seiji Kimura ◽  
Toshiro Mitsuda ◽  
Nobuko Misugi ◽  
Fumiko Saito ◽  
Akira Tonomura ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Features ◽  
Autosome Translocation

scholarly journals Correlation between clinical features and deletions of the gene for dystrophin in duchenne muscular dystrophy.

1991 ◽  
Vol 30 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Hajime KANAZAWA ◽  
Hidetoshi TAKASHIMA ◽  
Satoshi FUJISHITA ◽  
Noritoshi SHIBUYA ◽  
Takuhisa TAMURA
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Features

scholarly journals Diagnosis delay of Duchenne Muscular Dystrophy

2004 ◽  
Vol 4 (2) ◽  
pp. 179-183 ◽  
Author(s):  
Alexandra Prufer de Queiroz Campos Araújo ◽  
Mariana Castro de Deco ◽  
Beatriz de Sá Klôh ◽  
Mariana Rangel da Costa ◽  
Fernanda Veiga de Góis ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Features ◽  
Medical Records ◽  
Dystrophin Gene ◽  
Final Diagnosis ◽  
University Hospital ◽  
Diagnosis Delay ◽  
Diagnosis Age

OBJECTIVES: to study the clinical features of Duchenne Muscular Dystrophy with emphasis on diagnosis delay. METHODS: an observational descriptive retrospective study was performed using medical records of patients with diagnosis of Duchenne Muscular Dystrophy given in the period from 1989 to 2000 at the neuropediatric out-patient clinic of a University Hospital. RESULTS: immunohistochemical results or deletion on the dystrophin gene confirmed the diagnosis of the 78 boys included in this study. Parents had noticed the first symptoms since the median age of two years. The final diagnosis was reached at a median age of seven. CONCLUSIONS: diagnosis age is closer to the age of ambulation loss than that of the first symptoms. There is a marked delay for the diagnosis of this disease in our setting.

The problem of Duchenne muscular dystrophy

1988 ◽  
Vol 319 (1194) ◽  
pp. 275-284 ◽  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Large Deletion ◽  
Genomic Sequences ◽  
Cdna Clones ◽  
Base Pairs ◽  
Length Polymorphisms ◽  
Autosome Translocation ◽  
Male Patients ◽  
Dmd Gene

Duchenne muscular dystrophy (DMD) is a lethal X-linked muscular disorder. The biochemical defect remains unknown, but the gene responsible has been mapped to band Xp21. The gene has now been cloned in two laboratories solely from knowledge of its map location. L. M. Kunkel and his colleagues isolated genomic sequences (PERT 87) from within a large deletion causing DMD, whereas our group isolated genomic sequences (XJ) spanning the junction of an X-autosome translocation causing the disease. Chromosome walking by both groups has led to the isolation of over 400 kilobases of the PERT 87 and X J region. Subclones of PERT 87 and X J reveal restriction fragment length polymorphisms that segregate with the dmd gene in 95 % of meioses, and fail to hybridize with DNA from about 8 % of male patients. Selected subclones of P E R T 87 and XJ contain exons that hybridize to musclederived complementary DNA (cDNA) clones. The cDNA clones detect a large (16 kilobase) message. Analysis of deletions, mutations and translocations suggests a DMD gene of between two million and three million base pairs. The clones obtained so far are useful for attempts to generate antibody against the gene product and for carrier identification and prenatal diagnosis.

scholarly journals A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation

2014 ◽  
Vol 9 (3) ◽  
pp. 290 ◽  
Author(s):  
TugceAksu Uzunhan ◽  
Umut Altunoglu ◽  
EdibePembegul Yildiz ◽  
Nur Aydinli
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Autosome Translocation

scholarly journals Clinical features and cardiopulmonary function of patients with atrophic heart in duchenne muscular dystrophy.

1987 ◽  
Vol 28 (5) ◽  
pp. 687-694 ◽  
Author(s):  
Suguru MATSUOKA ◽  
Kunio II ◽  
Hiroshi AKITA ◽  
Hirofumi TOMIMATSU ◽  
Yoshihide KURAHASHI ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Clinical Features ◽  
Cardiopulmonary Function

scholarly journals Duchenne muscular dystrophy in a female with x-autosome translocation

2021 ◽  
Vol 8 (4) ◽  
pp. 770
Author(s):  
Anuradha Sanadhya ◽  
Ritvika Jyani ◽  
Suresh Goyal ◽  
Neha Asora ◽  
Mukesh Kumar Gurjar
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Recessive Trait ◽  
Muscular Weakness ◽  
Intellectual Impairment ◽  
Autosome Translocation ◽  
History Of ◽  
Intellectual Deficit ◽  
Duchenne's Muscular Dystrophy ◽  
Classical Characteristic

Duchenne’s muscular dystrophy is the most common hereditary neuromuscular disease, which affects all races. Its classical characteristic clinical features being progressive muscular weakness, intellectual impairment and hypertrophy of the calves with proliferation of connective tissue and progressive fibrosis in muscles. As the disease is inherited as an X-linked recessive trait, thus females not manifesting the disease and acting as carriers only, as second X chromosome prevents the manifestation of disease. We report a case of classical Duchenne muscular dystrophy in 10 year old female with no intellectual deficit and no family history of similar type of muscular dystrophy.

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