Standards of Care

Diagnosis and management of DMD

Although guidelines are available for various aspects of DMD, comprehensive clinical care recommendations do not exist. This year, for the first time, Kate Bushby and colleagues published a comprehensive two-part article in Lancet giving recommendations on best practice in the management of Duchenne muscular dystrophy. The Lancet articles are available to download from the TREAT-NMD website.

The article provides pivotal guidance for anyone involved in the care of patients affected by DMD. It is particularly important for those caring for patients who do not have access to a range of specialists, as “input from different specialties and the emphasis of interventions will change as the disease progresses”.

The article is also a very useful tool to assist with the diagnosis of DMD, physiotherapy, surgery, neuromuscular and skeletal assessments and management, pharmacological interventions and psychosocial, pain, respiratory, cardiac and nutritional management.

The article has also been translated into a ‘family-friendly’ version and is also available on the TREAT-NMD website.

Diagnosis and management of SMA

The International Standard of Care Committee for Spinal Muscular Atrophy was formed in 2005, with a goal of establishing practice guidelines for clinical care of these patients. Consensus was achieved in 2007 on several topics related to common medical problems in spinal muscular atrophy, diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in each care area. The Consensus Statement for Standard of Care in Spinal Muscular Atrophy and a user friendly version are both available to download from the TREAT-NMD website.

Diagnosis and management of FSHD

A report has been published on standards of care and clinical trial readiness for facioscapulohumeral muscular dystrophy (FSHD). The report is based on the outcomes of a European Neuromuscular Centre (ENMC) workshop held in the Netherlands in January of this year. FSHD is the third most common muscle disorder and although no definite cure exists, careful management of the symptoms can lead to significant improvements in quality of life. The report was published in Neuromuscular Disorders [20(7):471-5] and can be accessed via the ENMC website.

Standard of Care for Congenital Muscular Dystrophy

Congenital muscular dystrophy (CMD) is a rare inherited neuromuscular disorder, with a wide range of phenotypes that makes diagnosis difficult. In order to provide the best way for clinicians to make a diagnosis and provide an expert guide to care, the international community has developed guidelines that address the following areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/nutrition/speech/oral care, cardiology, and palliative care. The guidelines cover at length assessment and currently available treatments for the most common problems in CMD — orthopedic deformity of the limb, joint, and spine. The guidelines provide specific recommendations about preventive care to slow disease progression, such as proper respiratory support. The Consensus Statement on Standard of Care for Congenital Muscular Dystrophies is available from the TREAT-NMD website.

Standard of Care for Congenital Myopathies

The Consensus Statement on Standard of Care for Congenital Myopathies has been published in the Journal of Child Neurology (March 18, 2012). This is the first such document to outline the clinical recommendations for congenital myopathies.

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies.However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies.

A family guide for the care of those with a congenital myopathy is available from