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disorders

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Spinal Muscular Atrophy (SMA) Research Update

By | November 17th, 2016|atrophies, research, trials|

Spinal Muscular Atrophy (SMA) Research update and treatment - AUSTRALIA A research update by Prof. Monique Ryan Director, Department of Neurology Group Leader, [...]

Becker MD

By | July 23rd, 2016|

What is Becker muscular dystrophy? There are many types of muscular dystrophy (MD), all are genetic conditions that cause the muscles to weaken [...]

Bethlem Myopathy

By | July 23rd, 2016|

What is Bethlem myopathy? Bethlem myopathy is a hereditary muscle disorder, which is named after the Dutch doctor who first described the condition [...]

CMD with Collagen Deficiency

By | July 23rd, 2016|

What is Congenital muscular dystrophy with collagen VI deficiency?                                    Congenital muscular dystrophies (CMD) are a group of hereditary disorders, frequently presenting at [...]

Central Core Disease

By | July 23rd, 2016|

What is central core disease? Central core disease (or CCD) is a rare condition and symptoms usually become apparent at during pregnancy, birth [...]

Centronuclear & Myotubular Myopathy

By | July 23rd, 2016|

What are centronuclear and myotubular myopathies? The centronuclear myopathies are a group of rare inherited neuromuscular conditions that cause muscle weakness and hypotonia [...]

Benign Congenital Hypotonia

By | July 23rd, 2016|

What is benign congenital hypotonia? Benign congenital hypotonia (BCH) is a nonprogressive neuromuscular disorder that is present at birth. Congenital hypotonia is a [...]

Congenital MD

By | July 23rd, 2016|

What is congenital muscular dystrophy? Congenital means ‘from birth’ and as such individuals with congenital muscular dystrophy (CMD) usually have symptoms present at [...]

Congenital Myotonic Dystrophy

By | July 23rd, 2016|

What is congenital myotonic dystrophy? Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease).Usually in myotonic [...]

Distal MD

By | July 23rd, 2016|

What is Distal Muscular Dystrophy? Distal MD is the rarest type of muscular dystrophy. This form of MD is actually a group of [...]