Challenges in the management of the child with Duchenne muscular dystrophy in a resource poor setting:a case report
نویسندگان
چکیده
Duchenne muscular dystrophy is a progressive genetic disease with no cure at present. Children suffering from this disease eventually become wheelchair bound and die in their late teens. Paediatricians caring for the child with Duchenne Muscular Dystrophy in resource poor settings face a lot challenges. These challenges include: poverty, inadequate multidisciplinary care, emotional burn-out of parents and lack of facilities for dystrophin assay or genetic testing.
منابع مشابه
Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA
Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...
متن کاملP164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
متن کاملAssociation of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report
Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...
متن کاملTwenty nail dystrophy associated with lichen planus in a child: A case report
Twenty Nail Dystrophy (TND) is a rare acquired idiopathic nail dystrophy characterized by excess longitudinal ridging, distal notching, splitting, loss of nail luster and thinning of nail plates that may affect 1 to 20 nails. It occurs as a common manifestation of various dermatoses affecting the nail unit like lichen planus, psoriasis, atopic dermatitis, onychomycosis, vitiligo and alopecia ar...
متن کاملAnaesthetic Management of a Child with Limb-Girdle Muscular Dystrophy.
Limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. These disorders may lead to an increase in life-threatening complications related to surgery and anaesthesia. In this case, the anaesthetic management of a child with limb-girdle muscular dystrophy is presented.
متن کامل