This page is dedicated to the Myopathies and Dystrophies research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Myopathies and Dystrophies research study, established at Boston Children’s in 1991 and led by Dr. Alan Beggs, has enrolled more than 1,500 patients and their families with congenital myopathies and related neuromuscular diseases.
Director, The Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School
Disease information
Myopathies and dystrophies are a group of genetic disorders that affect the muscle. Most children with myopathies and dystrophies have muscle weakness and lack of muscle tone that complicates basic activities like swallowing and breathing. More than 55 genes have been identified as causes for myopathies and dystrophies. Learn more about myopathies and dystrophies at Boston Children’s.
Key outcomes
To date, almost 60% of patients have received a clinical diagnosis, and an additional 11% had a candidate gene identified that is being further researched.
Genes of interest
ACTA1 ACTN2 AGRN ALG13 ALG14 ALG2 ALG3 B3GALNT2 B4GAT1/B3GNT1 BAG3 BIN1 CACNA1S CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CHRNG CNTN1 COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CRYAB DAG1 DES DNAJB6 DNM2 DOK7 DOLK DPAGT1 DPM1 DPM2 DPM3 EMD FHL1 FKBP14 FKRP FKTN FLNC FXR1 GFPT1 GGPS1 GMPPB GNE GOLGA2 GOSR2 HNRNPA1 HRAS HSPB8 INPP5K ISPD ITGA7 KBTBD13 KLHL40 KLHL41 KY LAMA2 LAMA5 LAMB2 LARGE LDB3/ZASP LMNA LMOD3 LRP4 MEGF10 MICU1 MSTO1 MTM1 MUSK MY09A MYBPC3 MYH2 MYH6 MYH7 MYH8 MYL1 MYL2 MYO18B MYOT/TTID MYPN NEB ORAI1 PAX7 PGM1 PIGY PLEC POLK POMGNT1 POMGNT2/GTDC2 POMK/SGK196 POMT1 POMT2 PREPL PYROXD1/RYROXD1 RASPN RPH3A RXYLT1/TMEM5 RYR1 RYR3 SCN4A SELENON/SEPN1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SPEG STAC3 STIM1 SUN1 SUN2 SYNE1 SYNE2 SYT2 TCAP TNNI3 TNNT1 TNNT3 TPM1 TPM2 TPM3 TRAPPC11 TRDN TTN TUBB3 UNC13A unknown VAMP1/SBY1 VCP VMA21 ZAK
Participate in research
Interested patients can contact the Beggs Lab at beggslabgc@childrens.harvard.edu. Physicians may also refer their patients with myopathy or dystrophy to Dr. Beggs. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Beggs’ studies on the Beggs Lab webpage.
Patient care
Patients and their families with myopathy or dystrophy can be seen by an expert multidisciplinary team in the Neuromuscular Center at Boston Children’s.
Patient stories
- An individual contacted the Beggs Lab research program on congenital myopathies after a decades-long odyssey searching for a diagnosis. After clinical whole exome sequencing, they still had no definitive diagnosis for their muscle condition and described the difficulties they faced due to physical limitations and the lack of proper health services due to being undiagnosed. Whole-genome sequencing and analysis via the CRDC identified variants in a recently described myopathy gene, MYMK, providing them with a name for their condition after more than 30 years, which opened doors to new resources, community connections, and additional research opportunities.
- William was born with a rare, muscle-weakening disease called X-linked myotubular myopathy, or MTM, leaving him virtually immobile. From the first days of his life, he participated in ground-breaking research with the Beggs Lab for Congenital Myopathy Research. Beggs’ lab has helped identify many of the dozen or more known causative genes and has studied the MTM1 gene that’s mutated in William for many years, modeling the mutations’ effects in animals and examining their impact on children’s muscles. This work continues to translate research discoveries into a treatment that could help patients get stronger. Read William’s story.
Investigator
Divisions
Notable publications by investigator
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
- Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
- Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
- Genotype-phenotype correlation in recessive DNAJB4 myopathy.
- Genome Sequencing for Diagnosing Rare Diseases.
- Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes.
- Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations.
Disease support organizations
A Foundation Building Strength
A Foundation Building Strength is the only 501(c)3 organization solely dedicated to finding treatments for Nemaline Myopathy, while providing support and resources to the NM community.
Cure CMD
Cure CMD is a nonprofit organization focused on funding research and supporting those affected by congenital muscular dystrophy.
Joshua Frase Foundation
Joshua Frase Foundation is a 501c3 nonprofit organization that provides information for families and physicians about Myotubular and Centronuclear Myopathy, and funds cutting-edge research in the area of regenerative medicine, gene therapy, and genetics.
MTM-CNM Family Connection
MTM-CNM Family Connection is a nonprofit charitable organization with a mission to connect families affected by Myotubular Myopathy (MTM) and/or Centronuclear Myopathy (CNM) to resources, research, and relationships within the MTM-CNM community.
Muscular Dystrophy Association
Muscular Dystrophy Association (MDA) is a voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. For over 70 years, MDA has led the way in accelerating research, advancing care, and advocating for the support of families.
Team Titin
Team Titin is a consortium of scientists and affected community members whose mission is to connect, educate, and inspire researchers, clinicians, and families with a focus on titin-related muscle and heart disorders.
The RYR-1 Foundation
The RYR-1 Foundation supports research leading to an effective treatment or a cure for RYR-1-Related Diseases. This is achieved through the support of RYR-1 research, the education of medical professionals about RYR-1-Related Diseases, and by providing patient and family support and advocacy.
Caterina Grace Foundation
Caterina Grace Foundation is a nonprofit organization that aims to raise awareness and funding to support targeted research to develop treatment therapies for Nemaline Myopathy.
Giving Strength Inc
Giving Strength Inc. is a nonprofit organization dedicated to raising money to fund research grants and awareness for congenital muscular dystrophy, specifically for the subtype and rare genetic disorder SELENON Related Myopathy.
Malignant Hyperthermia Association of the United States
Malignant Hyperthermia Association of the United States (MHAUS) is a nonprofit organization with a mission to promote optimum care and scientific understanding of MH and related disorders. The organization advocates for continuous temperature monitoring for all surgical patients undergoing general anesthesia, adequate dantrolene supplies near the OR, and thorough family histories.
Myotubular Trust
Myotubular Trust is a charitable organization that supports families affected by the different stages of living with myotubular and centronuclear myopathy and promotes the study and research into the treatment and cure of muscle weakness caused by myotubular myopathy.
Parent Project Muscular Dystrophy
Parent Project Muscular Dystrophy (PPMD) is the largest nonprofit organization in the United States focused entirely on Duchenne muscular dystrophy. It takes a comprehensive approach in the fight against Duchenne—funding research, raising awareness, promoting advocacy, connecting the community, and broadening treatment options.
Metabolic Support UK
Metabolic Support UK is a nonprofit organization dedicated to supporting people living with Inherited Metabolic Disorders (IMDs) by providing individual support, building communities, advocating for better treatments, and funding research.
GAIN Charity (Guillain-Barré and Associated Inflammatory Neuropathies)
GAIN Charity is a nonprofit organization focused on supporting people affected by Guillain-Barré Syndrome (GBS), Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), and other related conditions through advice, information, personal grants, and research funding.
GBS/CIDP Foundation of Canada
The GBS/CIDP Foundation of Canada is a nonprofit organization committed to improving the quality of life for individuals and families affected by GBS, CIDP, and variants by providing early diagnosis, expert treatment, support, and advocating for better treatment access.
Cure SMA
Cure SMA is a nonprofit organization dedicated to funding research and providing support for spinal muscular atrophy (SMA) to improve the lives of those affected by the disease.
SMA Australia
SMA Australia is a nonprofit organization focused on supporting individuals and families affected by spinal muscular atrophy (SMA) through advocacy, education, and research funding.