PatientCrossroads CMD


           

Consensus Guidelines & Management Guides for Congenital Muscle Disease

A number of guidelines have been written to help affected individuals, families, and healthcare providers to make the best care decisions possible.  These guides have been written by experts in the field of congenital muscle disease and neuromuscular disease from all over the world. 



Guide to Respiratory Care for Neuromuscular Disorders

While neuromuscular disorders do not impair the lungs themselves, they can affect the muscles involved in breathing and coughing.  This can lead to the impairment of these functions over time, making respiratory complications common in people with neuromuscular disorders.

Click here to learn more about Breathing in CMD


Management of CMD: A Family Guide

The old adage, knowledge is power was never been more true than in the face of a congenital disease affecting those we love and care for.  This guide provides a foundation of information for families so that we may shift from the frustration of powerlessness to becoming an active participant in care and advocacy.  All productive systems of care require a team approach and by providing families with medical information, in terms we can understand and share with professionals, this guide will enable us to more effectively participate on the team which is essential for the well-being of the individual with CMD.

The Family Guide is the translation of the CMD Consensus Guidelines into language that is easy to understand.  This project was led by Dr. Thomas Sejersen and managed by Diane Smith Hoban and Susan Sklaroff Van Hook.  Additional contributors: Anne Rutkowski, MD, Meganne Leach, PNP, Ching Wang, MD, Kate Bushby, MD, Katy Meilleur, PNP,PhD, Carsten Bonnemann, MD

Click here to view the CMD Family Guide in the following languages:
English
Spanish
Portuguese
French Candadian
German
Norwegian
Latvian
Serbian
Czech
Turkish
Japanese

 

Congenital Muscular Dystrophy Consensus Guidelines

The CMD Consensus Guidelines represent the efforts of an international CMD clinical consortium led by Dr. Ching Wang, Dr. Thomas Sejersen and Dr. Anne Rutkowski and was made possible through the generous support of TREAT-NMD, AFM, Telethon and Cure CMD.

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.

Click here to view the Congenital Muscular Dystrophy Consensus Guidelines


The Care of Congenital Myopathy: A Guide for Families

Click here to view the Congenital Myopathy Family Guide

 


Congenital Myopathy Consensus Guidelines

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.

The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences,periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.Click here to view the Congenital Myopathy Consensus Guidelines

 

Family Guide to Myotubular Myopathy

The diagnosis of Myotubular Myopathy (MTM, or XLMTM) can be scary and overwhelming. We hope you take comfort in the fact that others have experienced what you are going through. Welcome to one of the strongest community support groups of any rare disease! The parents and families of children with MTM are united in helping each other and are working together to find the first treatment for this disease.

Click here to view/download the Family Guide to Myotubular Myopathy