Duchenne muscular dystrophy in a female with x-autosome translocation

Authors

  • Anuradha Sanadhya Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Ritvika Jyani Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Suresh Goyal Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Neha Asora Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India
  • Mukesh Kumar Gurjar Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20211094

Keywords:

Muscular dystrophy, X linked recessive, translocation, autosome

Abstract

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.

Author Biographies

Anuradha Sanadhya, Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India

Associate Professor
Department of Pediatrics
RNT Medical College
Udaipur

Ritvika Jyani, Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India

Resident

Department of Pediatrics
RNT Medical College
Udaipur

Suresh Goyal, Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India

Sr. Professor

Department of Pediatrics
RNT Medical College
Udaipur

Neha Asora, Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India

Resident
Department of Pediatrics
RNT Medical College
Udaipur

Mukesh Kumar Gurjar, Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan, India

Resident,

Departmen of Pediatrics

References

Diana X., Goebel B. Muscular Dystrophies Chapter 627, page3281 in Nelson Text Book of Pediatrics 21st Edition, Elsevier Publishers. 2019.

Nozoe KT, Akamine RT, Mazzotti DR. Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports. Sleep Sci. 2016;9(3):129-133.

Hoffman EP, Kunkel IM. Dystrophin abnormalities in Duchenne and Becker muscular dystrophy. Neuron. 1989;2:1019-29.

Bodrug SE, Burghes AH, Ray PM, Worton RG. Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics.1989;4(1):101-4.

Nahrel R, Kosam A. Duchenne Muscular Dystrophy in a Female Child with Turner syndrome: A Case report. Int J Med Res Rev. 2014;2(3):262-266.

Emanuel BS, Zackai E, Tucker SH. Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. J Med Genet. 1983;20.6:461-63.

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Published

2021-03-23

Issue

Section

Case Reports