Musculoskeletal Diseases
May 21, 2020| Posted in: Musculoskeletal Diseases
Duchenne muscular dystrophy (DMD) is a progressive form of…
Duchenne Muscular Dystrophy
May 20, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases
Heather A. Lau, MD, Director, Lysosomal Storage Disease…
Overview of the Mucopolysaccharidoses
May 7, 2020| Posted in: Congenital And Genetic Conditions, Expert Perspectives, Musculoskeletal Diseases
Michael Snape, PhD, Chief Scientific Officer at AMO…
Congenital Myotonic Dystrophy
May 4, 2020| Posted in: Musculoskeletal Diseases, Neurology/Nervous System Diseases
Overview Lambert Eaton myasthenic syndrome is a disorder…
Lambert-Eaton Myasthenic Syndrome
May 3, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Uncategorized
Other Names: Mucopolysaccharidosis III; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome…
Sanfilippo Syndrome (Mucopolysaccharidosis III)
May 1, 2020| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Ophthalmology/Eye Diseases, Skin Conditions, Uncategorized
Other Names: CINCA syndrome; CINCA; Infantile Onset Multisystem Inflammatory…
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Apr 30, 2020| Posted in: Congenital And Genetic Conditions, Metabolic Disorders, Musculoskeletal Diseases, Ophthalmology/Eye Diseases, Uncategorized
Mucopolysaccharidosis type VII (MPS VII), also known as…
Mucopolysaccharidosis type VII (Sly Syndrome)
Apr 29, 2020| Posted in: Congenital And Genetic Conditions, Endocrine Disorders, Hematologic Disorders, Kidney And Urinary Diseases, Musculoskeletal Diseases, Neurology/Nervous System Diseases
Other Names: HbS disease; Hemoglobin S Disease; Sickling disorder…
Sickle Cell Anemia
Apr 27, 2020| Posted in: Congenital And Genetic Conditions, Musculoskeletal Diseases, Neurology/Nervous System Diseases
Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle…
Hypokalemic Periodic Paralysis
Apr 24, 2020| Posted in: Kidney And Urinary Diseases, Musculoskeletal Diseases
Other Names: Adult Still's disease; Still's disease adult onset.…
Still’s Disease (Adult Onset)
