Musculoskeletal Diseases

Apr 14, 2021| Posted in: Congenital And Genetic Conditions, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases

The Diagnostic Journey For MPS VII Patients

Deborah Marsden, MD, Global Medical Expert, Medical Affairs,…
Apr 13, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Musculoskeletal Diseases

FSHD Patient Encourages Others to Get Involved with Patient Advocacy Groups

Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and…
Apr 13, 2021| Posted in: Advocacy, Congenital And Genetic Conditions, Musculoskeletal Diseases

Advice for New SMA Parents

Stacy Pokorny, a mother of a young girl…
Apr 9, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Metabolic Disorders, Musculoskeletal Diseases, Ophthalmology/Eye Diseases

What is Sly Syndrome

Deborah Marsden, MD, Global Medical Affairs Lead at…
Apr 6, 2021| Posted in: Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases

FSHD Patient’s Diagnostic Journey

Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and…
Apr 1, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases

Achondroplasia and Bone Lengthening Surgery

Chandler Crews, a young adult with achondroplasia, explains…
Apr 1, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases

Advice for New SMA Parents

Stacy Pokorny, a mother of a young girl…
Mar 31, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases

The Typical Diagnostic Journey for FSHD Patients

Sarah Boyce, President and CEO of Avidity Biosciences,…
Mar 30, 2021| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases

“I Call Myself Gadget Girl”: How One Patient Manages Her FSHD

Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and…
Mar 26, 2021| Posted in: Congenital And Genetic Conditions, Drug Development, Gastrointestinal Diseases, Heart Diseases, Kidney And Urinary Diseases, Metabolic Disorders, Musculoskeletal Diseases, Ophthalmology/Eye Diseases, Treatment

Investigational Drug Could Be First-Ever Approved Treatment for Alagille Syndrome

Chris Peetz, President and CEO of Mirum Pharmaceuticals,…

CME Program: Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium 2020

Barbara K. Burton, MD highlights the latest information about MPSs from WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with these rare diseases.

Rare Disease Clinical Trials CME Program

Learn about clinical trials and rare diseases through these brief courses that are certified for CME and CNE credit.
  • Heather Lau, MD, MS, NYU School of Medicine, New York, NY
  • Morie A Gertz, MD, Mayo Clinic, Rochester, MN
  • Timothy Craig, DO, Penn State University, Hershey, PA
  • Eric T. Wong, MD, Harvard Medical School, Boston, MA

Musculoskeletal Diseases

Topics