Archives: Conditions A-Z
Primary Immunodeficiency
What is Primary Immunodeficiency? Primary immunodeficiency (PID) refers to a group of more than 400 rare genetic disorders that affect…
Myasthenia Gravis
An autoimmune disorder of the neuromuscular junction; symptomatic, immunosuppressive and targeted therapies are available.
Pompe Disease
A lysosomal glycogen storage disorder from acid alpha-glucosidase deficiency; enzyme replacement therapy improves survival and function.
Amyotrophic Lateral Sclerosis
A progressive neurodegenerative motor-neuron disease; available therapies modestly slow progression, with a SOD1-targeted option for that genetic subtype.
Spinal Muscular Atrophy
A motor-neuron disorder caused by SMN1 loss; SMN-targeted therapies have markedly changed the natural history, especially with early treatment.
Duchenne Muscular Dystrophy
A severe X-linked muscular dystrophy caused by dystrophin deficiency; corticosteroids, exon-skipping agents and gene therapy are used in eligible patients.
Hemophilia B
An inherited bleeding disorder from factor IX deficiency; factor replacement and gene therapy are available.
Hemophilia A
The most common severe inherited bleeding disorder; factor replacement, non-factor therapy and gene therapy are available.