Asunto(s)
Parálisis Bulbar Progresiva/tratamiento farmacológico , Pérdida Auditiva Sensorineural/tratamiento farmacológico , Riboflavina/uso terapéutico , Médula Espinal/fisiopatología , Parálisis Bulbar Progresiva/diagnóstico , Parálisis Bulbar Progresiva/fisiopatología , Niño , Femenino , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Médula Espinal/patología , Resultado del TratamientoRESUMEN
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective. PubMed search using keywords such as limb-girdle muscular dystrophies in India, sarcoglycanopathies, dysferlinopathy, calpainopathy, and GNE myopathy was carried out. The published information on LGMDs in Indian context suggests that dysferlinopathy, calpainopathy, sarcoglycanopathies, and other myopathies such as GNE myopathy are frequently seen in India. Besides these, anecdotal reports of many other forms are available, some with genetic support and others showing immunocytochemical defects. The genotypic information on LGMDs is gradually evolving and founder mutations have been detected in selected populations. Further multicenter studies are necessary to document the incidence and prevalence of these common conditions in India.