Project DMD

Project DMD is a research project focused on exploring the journey to adulthood for young people with Duchenne Muscular Dystrophy (DMD). AHNA researcher Tegan Pinese is coordinating the project to better understand what living as an adult with DMD is like and how young people and their families can best be supported to plan and […]

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Now available: evidence based guideline summary for FSHD

An evidence based guideline summary for Facioscapulohumeral muscular dystrophy (FSHD) has recently been published. The guideline provides recommendations relating to the evaluation, diagnosis and treatment of FSHD. The guideline is available here.

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MyLifeMyVoice study

The MyLifeMyVoice study seeks to describe the current health and wellbeing of teenagers living with NMD in Australia and New Zealand, and explore what teenagers think and feel about engagement in their health care. This study involves a questionnaire that can be completed with the help of a study volunteer. A few teenagers are also […]

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CMTPedS calculator now online!

Professor Joshua Burns and the Centre of Research Excellence in Neuromuscular Disorders have just finalised a new calculation tool to measure the level of disability in children with Charcot-Marie-Tooth disease (CMT). The CMTPedS Calculator is a user-friendly online tool developed to support the CMT Pediatric Scale, which collects validated measures of strength, dexterity, sensation, gait, […]

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INMR diagnostic meetings schedule

Please see below for dates of The Institute for Neuroscience and Muscle Research (INMR) at The Children’s Hospital at Westmead diagnostic meetings schedule. Genetic Muscle Disease Diagnostic Meeting: As we move away from tissue diagnosis towards genetic diagnosis, this forum is to discuss difficult cases and to pool thoughts on the interpretation of results (incorporating […]

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1000 Norms Project Update

The 1000 Norms Project has again been featured in the media! To date, over 600 people have volunteered to be in the study. To find out more, watch this video where Professor Josh Burns explains the important meaning behind the project and how it can help patients with neuromuscular disorders. The researchers are still seeking […]

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Lifeline for Pompe disease patients

RCH clinicians have worked with the Australian Pompe Association, drug company Genzyme and the Federal government to achieve government-subsidised treatment for late-onset Pompe disease. 12-year-old patient Christian Rivera received his first infusion at the RCH last week. The federal government has listed the only registered treatment for Pompe disease, Myozyme (alglucosidase alfa), on the Life […]

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UCL Clinical Research Associates

UCL Institutes of Neurology and Child Health MRC Centre for Neuromuscular Diseases  CLINICAL RESEARCH ASSOCIATES X 3 An exciting opportunity for three Clinical Research Associates has arisen at the MRC Centre for Neuromuscular Diseases, UCL Institutes of Neurology and Child Health. The CRAs will have the opportunity to undertake experimental and/or clinical research in neuromuscular […]

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SMA1 Trial

The RCH Melbourne Neuromuscular research team is about to initiate a new study looking at a novel therapeutic agent for spinal muscular atrophy type 1 (SMA1). The agent (ISIS 396443) is an antisense oligonucleotide which will be administered intrathecally with an aim to restore SMN gene expression in the spinal cord. This is the first Australian […]

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New Cardiac DMD Registry

Sudden Cardiac Death in Duchenne Muscular Dystrophy: Incidence and Prevention Patient Registry Please click the below link for more information: Approved_DMD Patient Registry Flier_v2 (2)

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Duchenne Foundation’s Melbourne Symposium 2014

The Duchenne Foundation’s Melbourne Symposium was held on the 29th March in Melbourne, coinciding with the ANN Annual Meeting. Audio files of the Symposium’s presentations may be of interest to ANN Members and can be accessed on the Duchenne Foundation website via the link: http://goo.gl/50JB0r    

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Study of early signs of breathing problems during sleep in DMD

Currently there are no accurate predictors of the need for a sleep study in children with DMD. Symptoms of breathing problems in DMD are slow to develop, and often are not noticed by the individual. Once symptoms of waking with a headache or being sleep during the day are reported, a sleep study often finds […]

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EOI: CMT Guidelines Scientific Advisory Committee

Development of Best Practice Guidelines for paediatric Charcot-Marie-Tooth disease The development of best practice guidelines, focusing on the clinical management of children with Charcot-Marie-Tooth disease (CMT) is currently underway, utilising a National Health and Medical Research Council (NHMRC) guided process (http://www.nhmrc.gov.au/guidelines/search). A call for members to join the Scientific Advisory Committee is now open. We […]

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