Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. Early signs of DMD may include...

Overview of the Mucopolysaccharidoses

  Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of the mucopolysaccharidoses (MPSs) a group of rare,...

WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be...

Tenosynovial Giant Cell Tumor (TGCT)

Overview Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis...

Clinical Trials and Rare Diseases

  Timothy Craig, DO of the Penn State Milton S. Hershey Medical Center talks about the need for clinicians to be educated about the pros and cons of entering a clinical trial. Clinical trials, especially those for rare diseases, are excellent opportunities for...
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