Publications and Resources
Standard of Care Publications for Duchenne Muscular Atrophy
Academic articles for Duchenne and Becker Muscular Dystrophy.
The 2018 Academic Articles:
- Part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management [PDF]
- Part 2: respiratory, cardiac, bone health, and orthopaedic management [PDF]
- Part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan [PDF]
There is also a guide for families: https://www.parentprojectmd.org/wp-content/uploads/2018/09/CareGuideForFamilies_2018.pdf
Standard of Care Publications for Spinal Muscular Atrophy
Diagnosis and management of spinal muscular atrophy
- Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care [PDF]
- Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics [PDF]
Advocacy, Support, and Education Organizations
Cure CMD: for Congenital Muscular Dystrophies
http://curecmd.org
Parent Project Muscular Dystrophy: for Duchenne and Becker muscular dystrophies http://www.parentprojectmd.org
The Duchenne Registry: patient/family information for Duchenne and Becker muscular dystrophies
https://www.duchenneregistry.org
Muscular Dystrophy Association: for pediatric and adult neuromuscular disorders
https://www.mda.org/
Cure SMA: for Spinal Muscular Atrophies
http://www.curesma.org/
SMArt Moves: Cure SMA’s Campaign Promoting Early Diagnosis in Spinal Muscular Atrophy
http://www.smartmoves.curesma.orgFamilies of SMA: for Spinal Muscular Atrophies
SMA Foundation: for Spinal Muscular Atrophies
http://www.smafoundation.org
FSH Society: for Facioscapulohumeral muscular dystrophy
https://www.fshsociety.org
Referral Resources
Child Neurology Society
http://www.childneurologysociety.org/
The Duchenne Registry: patient registry for Duchenne and Becker muscular dystrophies
https://www.duchenneregistry.org/
Muscular Dystrophy Association Clinics
https://www.mda.org/care/mda-care-centers
Genetic Counselor database
www.nsgc.org
American College of Medical Genetics member database
www.ACMG.net
Motor Delays: Early Identification and Evaluation
Garey H. Noritz, Nancy A. Murphy and NEUROMOTOR SCREENING EXPERT PANEL
http://pediatrics.aappublications.org/content/early/2013/05/22/peds.2013-1056.full.pdf+html
AAP Bright Futures Guidelines for Health Supervision of Infants, Children, and Adolescents. Pocket Guide: Fourth Edition (2017). Eds Hagan, Shaw, and Duncan.
https://brightfutures.aap.org/materials-and-tools/guidelines-and-pocket-guide/Pages/default.aspx
Council on Children With Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee and Medical Home Initiatives for Children With Special Needs Project Advisory Committee (2006). Identifying Infants and Young Children with Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening. Pediatrics 118;405-420.
http://www.pediatrics.org/cgi/content/full/118/1/405
Neuromuscular Disorder Resources
GeneReviews: expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. (Search by disorder name.)
https://www.ncbi.nlm.nih.gov/gtr/
Neuromuscular Disease Center, Washington University, St Louis MO
http://neuromuscular.wustl.edu/