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

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.

1997 ◽  
Vol XXIX (1-2) ◽  
pp. 73-75
Author(s):  
М. P. Tulskaya ◽  
G. K. Yudina

The paper is concerned with a case history of a girl with a rare combination of 2 rare anomalies monosomia by X chromosome and Duchenne's muscular dystrophy. Mosaicism 45,X/46,XX in a girl with a mild picture of Duchenne's muscular dystrophy was confirmed by a study of the kariotype in lymphocytes of the peripheral blood.


PEDIATRICS ◽  
1977 ◽  
Vol 60 (2) ◽  
pp. 248-251
Author(s):  
Allen D. Roses ◽  
Garth A. Nicholson ◽  
Charles R. Roe

Recently, it has been suggested that all newborn male infants be screened for Duchenne muscular dystrophy (DMD) by measuring creatine phosphokinase (CPK) levels.1,2 One of the main arguments for this approach is that mothers of affected infants who have no known family history of DMD can be counseled. Current genetic counseling advice, however, is based on a theory that many DMD patients represent new mutations.3-5 Zellweger and Antonik have stated the theory when they say, "DMD is inherited as an X-linked recessive trait in two-thirds of the cases, and is due to new mutations in the rest of the cases.l


Author(s):  
Alan E. H. Emery ◽  
Marcia L. H. Emery

Chapter 2 discusses how Duchenne muscular dystrophy was observed and perhaps even recorded in earlier times.


1993 ◽  
Vol 72 (2) ◽  
pp. 130-131 ◽  
Author(s):  
Nick C. Benton ◽  
Robert A. Wolgat

We describe a four-year-old boy of Indian descent who had elective adenotonsillectomy for chronic sore throat and partial airway obstruction. About 10 minutes into the procedure, the patient suddenly developed cardiac asystole. After prolonged cardiac resuscitation, recovery was achieved. No permanent neurologic deficits resulted. The child was later found to have a strong family history of Duchenne's muscular dystrophy (DMD) and an elevated serum creatine kinase level documented since shortly after birth. We reviewed several case reports substantiating the risk for cardiac arrest during general anesthesia in DMD patients, and we concluded that DMD is a little-known risk for cardiac arrest during general anesthesia. The otolaryngologist must be aware of this potential complication, because tonsillectomy and adenoidectomy are commonly indicated for children at an age when DMD may be subclinical.


2018 ◽  
Vol 59 (2) ◽  
pp. 176-183 ◽  
Author(s):  
Wen-Chen Liang ◽  
Chen-Hua Wang ◽  
Po-Ching Chou ◽  
Wan-Zi Chen ◽  
Yuh-Jyh Jong

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