Duchenne Muscular Dystrophy in a Female Child with Turner syndrome: A Case report

Nahrel, Dr Rakesh; Kosam, D.

doi:10.17511/ijmrr.2014.i03.17

Cited by 2 publications

(2 citation statements)

References 14 publications

(18 reference statements)

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“…Turner syndrome with an XO pattern is another rare situation which may co-exist with DMD in a girl, since the abnormal X is not suppressed by the missing normal chromosome. 5 Till date 7 cases of X chromosome and autosome translocation have been reported. In 6 out of 7 cases X p 21 part of X chromosome was involved, one had p11.06 part involved.…”

Section: Discussionmentioning

confidence: 99%

Duchenne muscular dystrophy in a female with x-autosome translocation

Sanadhya

Jyani

Goyal

et al. 2021

Int J Contemp Pediatr

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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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Section: Discussionmentioning

confidence: 99%

Duchenne muscular dystrophy in a female with x-autosome translocation

Sanadhya

Jyani

Goyal

et al. 2021

Int J Contemp Pediatr

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“…Because of presence of only one X-chromosome mutation in that will manifest as DMD. 12,13 (c) Sarcoglycanopathies (sarcoglycanopathies that are inherited by autosomal recessive pattern thus affects boys as well as girls). 5,7 On clinical examination there is no features of Turners syndrome and USG abdomen shows normal ovaries and uterus, thus turners syndrome ruled out.…”

Section: Scarmdmentioning

confidence: 99%

Female child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case report

Rafi

Sreekantham

Tumati

2018

Int J Contemp Pediatr

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Severe Childhood Autosomal Recessive Muscular Dystrophy (SCARMD) is a variant of sarcoglycanopathy resulting from mutation in the sarcoglycan genes. SCARMD is a rare form of muscular dystrophy characterised by severe DMD like phenotype occurring at early ages and affecting boys as well as girls. Here we are reporting a case of 7year old female child born to 3rd degree consanguineous parents presented with proximal muscle weakness beginning in both lower limbs since4 years of age. On thorough clinical examination and laboratory evaluation child turned out to be SCARMD. Hence this case report emphasizes that suspicion of SCARMD has to be made when female children presented with features of DMD, and genetic counselling and prenatal diagnosis should be done to reduce the burden of the disease in the community.

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Duchenne Muscular Dystrophy in a Female Child with Turner syndrome: A Case report

Abstract: Duchenne Muscular Dystrophy (DMD) is a severe, progressive, X linked muscular wasting disorder that ordinarily has full clinical expression only in males. Females are affected in rare instances. We report a case of Duchenne Muscular Dystrophy in a female child with Turner's syndrome.

Cited by 2 publications

References 14 publications

Duchenne muscular dystrophy in a female with x-autosome translocation

Duchenne muscular dystrophy in a female with x-autosome translocation

Female child presenting with Duchenne muscular dystrophy like phenotype: severe childhood autosomal recessive muscular dystrophy: a rare case report

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