Biocehm- Muscular Dystrophies

Question 1

Autosomal Dominant

Answer 1

Myotonic and Facioscapulohumeral dystrophies

Question 2

the inability of a muscle to relax after contraction, DM1 and DM2 defects, most common dystrophy of adults, can be lethal, dominantly inherited

Answer 2

MMD

Question 3

facial muscle weakness, followed by weakness of the upper arms that may progress to the legs, protein product has not been isolated yet, autosomal dominant

Answer 3

FSHD

Question 4

recessive in kids, dominant in adults, Muscles affected initially are those of the pelvic and shoulder girdles.sarcoglycans are deficient

Answer 4

LGMD

Question 5

autosomal dominant, dutch families, proximal muscle weakness affecting both legs and arms (close to trunk) and joint contractures, most frequently affecting ankles and elbows, Type VI collage deficiency

Answer 5

BM

Question 6

Autosomal dominant, drooping eyelids and weakness in facial and
pharyngeal muscles, but can extend to limbs., french canadian families, expansion causing extra AA (polyalanines and PABPN1)

Answer 6

OPMD

Question 7

autosomal recessive, neonates appear “floppy” with low muscle tone, contractures and muscle weakness, CNS abnormalities can occur with mental retardation, deficiency of laminin-2, decreased glycosylation of alpha dystroglycan

Answer 7

CMD

Question 8

feared complications of general anaesthesia., severe reaction to certain anaesthetics
pathological elevation of calcium ions
• muscle rigidity, elevation of body temperature, acidosis
and tachycardia.

Answer 8

malignant hyperthermia