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Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name , FSHD tends to sequentially weaken the muscles of the face , those that position the scapula , and those overlying the humerus bone of the upper arm.
Duchenne muscular dystrophy is the most common type of muscular dystrophy, [3] with a median life expectancy of 27–31 years. [5] [11] However, with comprehensive care, some individuals may live into their 30s or 40s. [3] Duchenne muscular dystrophy is considerably rarer in females, occurring in approximately one in 50,000,000 live female ...
Many affected people will eventually become unable to walk [2] and Duchenne muscular dystrophy in particular is associated with shortened life expectancy. Muscular dystrophy was first described in the 1830s by Charles Bell. [2] The word "dystrophy" comes from the Greek dys, meaning "no, un-" and troph-meaning "nourish". [2]
In Qatar, MDC1A constituted 48% of congenital muscular dystrophy subtypes with estimated a point prevalence of 0.8 in 100.000 in a patient cohort from the Gulf and Middle East. [32] Contrastingly, in Australia it constituted 16% of all congenital muscular dystrophy subtypes namely the third most common subtype. [33]
DMD affects an estimated one-in-3,500 male births worldwide, and most patients lack the protein dystrophin which keeps muscles intact. US FDA approves Italfarmaco's drug for Duchenne muscle ...
The disease has only been identified as distinct from SMA recently, so research is still experimental, taking place mostly in animal models. Several therapy pathways have been devised which include gene therapy , whereby an IGHMBP2 transgene is delivered to the cell using a viral vector , [ 7 ] and small-molecule drugs like growth factors (e.g ...
Recent research has found that people with diabetes are more susceptible to developing multiple co-occurring long-term conditions, which, in turn, can shorten life expectancy. Diabetes-related ...
Symptoms of motor neuron diseases can be first seen at birth or can come on slowly later in life. Most of these diseases worsen over time; while some, such as ALS, shorten one's life expectancy, others do not. [2] Currently, there are no approved treatments for the majority of motor neuron disorders, and care is mostly symptomatic. [2]