MYOTONIC DYSTROPHY Angelika Kaakunga 12301016021
MYOTONIC DYSTROPHY Angelika Kaakunga 12301016021
Inherited disorder Onset can occur from any age Severity varies widely among affected people g A Expressionless and swanlike neck Slap jaw and ptosis Frontal balding and ptosis
• Inherited disorder • Onset can occur from any age • Severity varies widely among affected people Fig 1
Major Effects of Myotonic Dystrophy Fig 2. Cognitive Function: Intellectual Bone: Anomalies impairment, behavioral and psychological disorders, excessive Cardiovascular System daytime sleepiness Heart condition abnormalities arrhymias, cardiomyopathy Vision: Cataracts, retinal damage Gastrointestinal Tract: Swallowing Endocrine System: Diabetes, low issues, abdominal pain, irritable bowel thyroid hormone levels syndrome, constipation/diarrhea, poor nutrition and weight loss, chronic Respiratory System: Breathing infections dificulties, aspiration, sleep apnea nigh risk pneumonia Muscle: Weakness, wasting (atropy) myotonia, pain Skin: Pilomatrixoma Reproductive System in Women Immune: Hypogammalobulinemia Weakened uterine muscle pregnancy-related complications, and Reproductive System in Men gynecological problems Low testosterone levels, erectile dysfuntion, testicular failure and gonadal atrophy
epidemiology Affects 1 in 8000 people worldwide EXAMPLES 1in100000 3-15in100.000 1in500 (Japan) (Europe) (Quebec) Founder effect
Epidemiology • Affects 1 in 8000 people worldwide
Genetics Autosomal dominant Fg3 normal repeats Disorder Notable differences in CTGCTGCTGCTGCTGCTG GACGACGACGACGAC GAC sequence repeats Two types(symptoms may overlap 50 20g Both caused by mutations in different CTGCTGCTGCTG CTGCTG CTGCT G CTGCTGCTG CT CTO CTGCTOCTOCTGC1O GACGACGAC GAC GACGACGAC GACGACGACGAC GACGACOACGACGACGACGAC genes 山山山山山 山山山山山山u
Genetics • Autosomal Dominant Disorder • Notable differences in sequence repeats • Two types (symptoms may overlap) • Both caused by mutations in different genes