General Pediatric Resources
- Promoting Optimal Development: Identifying Infants and Young Children With Developmental Disorders Through Developmental Surveillance and Screening. Pediatrics. 2020;145(1):e20193449.
https://pubmed.ncbi.nlm.nih.gov/31843861/ - Recommendations for Preventive Pediatric Healthcare (Bright Futures/AAP) https://downloads.aap.org/AAP/PDF/periodicity_schedule.pdf
- AAP Bright Futures Guidelines for Health Supervision of Infants, Children, and Adolescents. Fourth Edition (2017). Eds Hagan, Shaw, and Duncan.
https://www.aap.org/Bright-Futures-Guidelines-for-Health-Supervision-of-Infants-Children-and-Adolescents-4th-Edition - 30-Month Neuromuscular Checklist Flyer
https://childmuscleweakness.org/wp-content/uploads/2024/10/finL-CMW_checklist_sheet_hires.pdf
Standard of Care Publications
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
Neuromuscular Disorder Resources
- GeneReviews
https://www.ncbi.nlm.nih.gov/gtr/ - Neuromuscular Disease Center, Washington University, St Louis MO
http://neuromuscular.wustl.edu/
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 - 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.org - SMA Foundation: for Spinal Muscular Atrophies
http://www.smafoundation.org - FSH Society: for Facioscapulohumeral muscular dystrophy
https://www.fshsociety.org - MitoAction: for Mitochondrial Disease
https://www.mitoaction.org - United Mitochondrial Disease Foundation
https://www.umdf.org
Genetic Testing
No Cost Genetic Testing
- Decode Duchenne: For the diagnosis of Duchenne or Becker muscular dystrophy. If DMD testing is negative, neuromuscular gene panel testing can be performed to test for other types of neuromuscular disorders.
- Invitae: Sponsored testing programs for multiple indications, including Detect Muscular Dystrophy.
- Probably Genetic: For patients with undiagnosed rare diseases.