Additional Resources

Publications and Resources 

Standard of Care Publications for Duchenne Muscular Atrophy

Academic articles for Duchenne and Becker Muscular Dystrophy.

The new 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
http://www.mdausa.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

http://www.fsma.org

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

Cure SMA Educational Resources for Health Care Providers:
Includes Cure SMA Conference Medical Presentations.
http://www.curesma.org/support-care/for-healthcare-providers/educational-resources/

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: Promoting Child Development
http://brightfutures.aap.org/pdfs/Guidelines_PDF/3-Promoting_Child_Development.pdf

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.)
http://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTests

Neuromuscular Disease Center, Washington University, St Louis MO
http://neuromuscular.wustl.edu/