A genetic study led by The George Washington University claims to have identified a ‘new type’ of muscular dystrophy (MD), the origins of which were previously unknown.
The research, which has recently been published in the American Journal of Human Genetics, claims that the ‘new’ condition – characterised by cataracts, intellectual disabilities and short stature is “a variant of MD that affects other organs”.
Dr Chiara Manzini, study co-author, says that “families and physicians have been searching for the origins of [the] rare disorder for years”.
Historically, the previously unnamed condition was thought to be linked with Marinesco-Sjögren syndrome – a muscle disorder very different from MD caused by a mutation in the INPP5K gene.
However, The George Washington University’s study, which examined the DNA of five children from four families affected by the condition, revealed that mutations in this gene affect its individual function inside a cell – where the gene plays a part in cell signalling and helping to process other proteins.
Due to this discovery, scientists have marked the disease as a new form of congenital MD – the term typically applied to progressive diseases which cause muscles to slowly degenerate over time.
Dr Manzini said: “Children with a similar combination of symptoms had been described in the medical literature before, but it was unclear whether or not it was a new disease. Now we know it’s a variant of MD that affects other organs”.
Robert Meadowcroft, chief executive of Muscular Dystrophy UK, added: “Early stage research identifying genes for muscle-wasting conditions, such as this, gives us valuable insight into better understanding these complex and rare conditions”.
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