FDA OKs First ‘Targeted Treatment’ for Rare DMD Mutation

The US Food and Drug Administration (FDA) has approved the antisense oligonucleotide casimersen (Amondys 45, Sarepta Therapeutics) injection for the treatment of patients with Duchenne muscular dystrophy (DMD) plus a rare DMD mutation, the agency has announced.  This particular mutation of the DMD gene “is amenable to exon 45 skipping,” the FDA noted in a press release. It added that […]

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Diagnosis of hypotonia

Hypotonia or lack of muscle tone is a sign of an underlying disease or condition. It may be seen at birth or may be acquired later in life. The aim of diagnosis is to detect the cause of the condition. If hypotonia is detected in a newborn baby or child by a paediatrician, a referral to a neurologist of a […]

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A molecule for fighting muscular paralysis

Myotubular myopathy is a severe genetic disease that leads to muscle paralysis from birth and results in death before two years of age. Although no treatment currently exists, researchers from the University of Geneva (UNIGE), Switzerland, — working in collaboration with the University of Strasbourg, France, — have identified a molecule that not only greatly reduces the progression of the […]

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How your muscles form

All vertebrates need muscles to function; they are the most abundant tissue in the human body and are integral to movement. In a recent article published in Nature Communications, an international team of researchers discovered two proteins essential to the development of skeletal muscle. This research, led by Jean-François Côté, a professor at the Montreal Clinical Research Institute (IRCM) and […]

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