Myasthenia gravis
F Myasthenia gravis Definition Myasthenia gravis, a chronic disease of the neuromuscular junction, is manifested by increasing skeletal muscle weakness, fatigability on effort, and at least partial restoration of function…
Muscular dystrophy
E Muscular dystrophy Definition Muscular dystrophy is a heterogeneous set of diseases that includes fascioscapulohumeral dystrophy, limb-girdle dystrophy, Becker muscular dystrophy (BMD), Duchenne muscular dystrophy (DMD), and others. DMD, also…
Malignant hyperthermia
D Malignant hyperthermia Definition and incidence Malignant hyperthermia is an uncommon, life-threatening hypermetabolic disorder of skeletal muscle triggered in susceptible individuals by potent inhalation agents, including sevoflurane, desflurane, isoflurane, and…
Lambert-eaton myasthenic syndrome
C Lambert-eaton myasthenic syndrome Incidence Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disease that classically occurs in patients with malignant disease, particularly small cell carcinoma of the bronchi. One-third…
Kyphoscoliosis
B Kyphoscoliosis Definition and incidence Kyphosis is a deformity marked by an accentuated posterior curvature. Scoliosis is a lateral curvature of the spine. Kyphoscoliosis results when both kyphosis and scoliosis…
Ankylosing spondylitis
A Ankylosing spondylitis Definition and incidence Ankylosing spondylitis (AS), also known as rheumatoid spondylitis and Marie-Strumpell disease, is a chronic inflammatory disorder that primarily affects the spine and sacroiliac joints…
Hepatic failure
Indirect: 0.2–0.7 mg/dLDirect: <0.5 mg/dL Increased; jaundice seen with plasma bilirubin levels >3 mg/dL Serum glutamic oxaloacetic transaminase (aspartate aminotransferase) 10–40 units/L Increased Serum glutamic-pyruvic transaminase (alanine aminotransferase*) 5–35 units/L…
Von willebrand disease
J Von willebrand disease Definition von Willebrand disease (vWD) has traditionally remained the most common inherited coagulation diathesis. von Willebrand factor (vWF) VIII is a heterogeneous multinumeric glycoprotein that serves…
Cirrhosis and portal hypertension
A Cirrhosis and portal hypertension Definition Cirrhosis is a progressive and ultimately fatal syndrome of hepatic failure. Pathophysiology Chronic alcoholism is the most common cause of cirrhosis (Laënnec’s cirrhosis) in…
Thalassemia
I Thalassemia Definition Thalassemia is an inherited autosomal recessive disorder resulting in a person’s inability to synthesize structurally normal hemoglobin. Incidence and prevalence Thalassemia major usually affects Greek and Italian…
