Gaucher Disease Type 1: Lysosomal Storage Disease

Myotonic Dystrophy

• Characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities in classic DM1
• Adults with DM1 may become physically disabled and have a shortened life span
• Congenital DM1 is characterized by hypotonia and severe generalized muscle weakness
• Myotonic dystrophy type 2 is characterized by progressive muscle wasting and weakness, with symptoms typically beginning in a person's twenties
• Symptoms of myotonic dystrophy type 2 include prolonged muscle contractions, slurred speech, temporary locking of the jaw, muscle pain and weakness, and cardiac conduction defects

Anticipation

• The phenomenon of anticipation occurs when the signs and symptoms of a genetic condition become more severe and appear at an earlier age as the disorder is passed from one generation to the next
• Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease, myotonic dystrophy, and fragile X syndrome

Marfan Syndrome

• Autosomal dominant disorder caused by mutations in the fibrillin-1 (FBN1) gene on chromosome 15
• Characterized by tall and slender build, disproportionately long arms, legs, and fingers, and a breastbone that protrudes outward or dips inward
• Symptoms include heart murmurs, high, arched palate, and crowded teeth
• Complications include widening and tearing of the aorta, valve deformities, and mitral valve prolapse

Pseudoachondroplasia

• Autosomal dominant disorder caused by mutations in the COMP gene
• Characterized by short-limbed dwarfism, with cartilage and bone abnormalities
• De novo mutations are paternal in origin, with no evidence of anticipation

Neurofibromatosis

• NF1 is a multisystem disorder with neurological, musculoskeletal, ophthalmological, and skin abnormalities, and a predisposition to neoplasia
• Caused by mutations in the NF1 gene, which regulates cell growth and differentiation
• Symptoms include cafe au lait spots, skin and bone abnormalities, and an increased risk of tumors

Tay-Sachs Disease

• Autosomal recessive disorder caused by mutations in the HEXA gene, leading to a deficiency of the enzyme hex A
• Characterized by the accumulation of glucocerebroside in nerve cells, leading to progressive nerve damage and death
• Symptoms include muscle weakness, seizures, and loss of motor skills
• No current medical treatment exists, with patients receiving supportive care to ease symptoms or extend life

Gaucher Disease

• Autosomal recessive disorder caused by mutations in the GBA1 gene, leading to a deficiency of the enzyme beta-glucocerebrosidase
• Characterized by the accumulation of glucocerebroside in macrophages, leading to variable expressivity of the disease
• Symptoms include hepatosplenomegaly, anemia, bone disease, coagulation abnormalities, and lung disease

This quiz covers Gaucher disease type 1, the most common lysosomal storage disease, its genetic causes, and its varying symptoms. Learn about the autosomal-recessive inheritance, prevalence in Ashkenazi heritage, and the role of the GBA1 gene.