Duchenne muscular dystrophy in a female with x-autosome translocation

Autor:	Neha Asora, Suresh Goyal, Anuradha Sanadhya, Ritvika Jyani, Mukesh Kumar Gurjar
Rok vydání:	2021
Předmět:	medicine.medical_specialty Endocrinology X autosome translocation business.industry Internal medicine Duchenne muscular dystrophy medicine medicine.disease business
Zdroj:	International Journal of Contemporary Pediatrics. 8:770
ISSN:	2349-3291 2349-3283
DOI:	10.18203/2349-3291.ijcp20211094
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::310b15e46057f7362b8027a38a4de52d https://doi.org/10.18203/2349-3291.ijcp20211094 Zobrazit plný text záznamu