/Tag: Duchenne

Victorian Muscle Network Symposium

Victorian Muscle Network Symposium l-r - Prof Peter Currie, Prof Andrea Maier, Boris M Struk, Prof Gordon Lynch & Prof Kathryn North The Inaugural Victorian Muscle Network Symposium was held at Bio21 yesterday (19th June 2018) prior to the Annual Meeting of the International Society for Stem Cell Research (ISSCR). International speakers presenting included Prof [...]

By | 2018-06-20T23:18:58+00:00 June 20th, 2018|Boris M Struk, presentation, research, trials|0 Comments

Duchenne MD – Spanish

Distrofia Muscular Duchenne ¿Qué significa Distrofia Muscular Duchenne? Hay muchas clases de DM y la causa de todas es un defecto en los genes (las unidades hereditarias que los padres traspasan a sus hijos). En el caso de la distrofia muscular Duchenne (DMD) la ausencia de proteína distrofina hace que los músculos se deterioren y [...]

By | 2018-06-01T03:47:35+00:00 August 24th, 2017|Comments Off on Duchenne MD – Spanish

FDA Approves Drug for Treatment of DMD

Chantal Coles PhD NMDRC provides a Research Update... On September 19th last year the U.S Food and Drug Administration (FDA) approved the first drug for the treatment of Duchenne Muscular Dystrophy, called EXONDYS 51™. This drug, formally known as Eteplirsen, is a gene modifying agent that bypasses a stop codon of the dystrophin, forming a [...]

By | 2018-06-01T03:49:09+00:00 April 3rd, 2017|information, research, trials|0 Comments

DMD – A Guide for Parents

DMD - A Guide for Parents Introduction Most people reading this booklet for the first time will have just been told that their son (and very rarely daughter) or the child of a relative has the disorder called Duchenne muscular dystrophy. To be told that a child will lose the ability to walk, the ability [...]

By | 2018-07-03T16:43:41+00:00 September 30th, 2016|Comments Off on DMD – A Guide for Parents

Respiratory & Ventilation

Respiratory & Ventilation Respiratory considerations in neuromuscular disorders particularly Duchenne MD and SMA form a significant part of caring for and providing the best possible outcome for the affected individual. The following links address several important considerations:

By | 2018-06-11T23:26:27+00:00 August 19th, 2016|Comments Off on Respiratory & Ventilation

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy There are many types of muscular dystrophy (MD); all are caused by errors in genes (the units of inheritance that parents pass on to their children). In Duchenne muscular dystrophy (DMD) lack of the protein dystrophin causes muscles to deteriorate and break down, leading to progressive difficulty with walking and general mobility. [...]

By | 2018-07-03T16:04:16+00:00 July 23rd, 2016|Comments Off on Duchenne Muscular Dystrophy

Glossopharyngeal Breathing (GPB)

Glossopharyngeal Breathing (GPB) Air Stacking or "Frog Breathing" Both inspiratory and, indirectly, expiratory muscle function can be assisted by "air stacking", technically known as "glossopharyngeal breathing" (GPB). For individuals with weak inspiratory muscles and no ability to breathe on their own, GPB can provide normal lung ventilation and perfect safety throughout the day without using [...]

By | 2018-06-11T23:23:02+00:00 July 23rd, 2016|Comments Off on Glossopharyngeal Breathing (GPB)

Ventilation Factsheet

Ventilation Factsheet There are many different neuromuscular conditions in which weakness of the breathing muscles requires monitoring and treatment and may eventually need some form of mechanical ventilation.  In Duchenne muscular dystrophy most boys/young men will need to start using a ventilator in their late teens to early twenties. In some other conditions such as [...]

By | 2018-06-11T23:25:08+00:00 July 23rd, 2016|Comments Off on Ventilation Factsheet