Muscular System Case #1 A thirty-five year old male presents to your clinic comp

Question

Muscular System Case #1 A thirty-five year old male presents to your clinic complaining, "I look old and my eyelids are sagging. He also states that he sometimes feels like he is wearing a hat with a big brim. He is otherwise healthy without any documented medical illness. Visual acuity is 20/20 uncorrected. Pupils are reactive to light and without afferent papillary defect. External examination is significant for bilateral ptosis; OD greater than OS. Palpebral fissure height is 6 mm OD; 9 mm OS. Marginal reflex distance (MRD,) is 2 mm OD; 4 mm OS. Levator function is borderline with 10 mm excursion. In the clinic, an ice-test is performed which confirms your suspicion. What is the most likely disgnosis? The toanosg a sweve bilajeval ptug9 as per What medical d ic test can be administered to confirm your suspicion? - luplexes -scle tne What is the drug class and the mechanism of action for the above -Ralance sclestyength O touch and sight ase s art congdered to be the usedl t What laboratory test can you order to . Te ati ho) telioahe 6 your diagnosis? Will a ptosis repair help this patient? Why? e sis, the aam tost

Explanation / Answer

case 2 # 1) most likely cause is duchenne muscular dystrophy. 2) laboratory test to be done is creating kinase test, diagnosis can be confirmed by DNA based genetic tests to confirm mutations. 3) genetic basis - DMD has an X-linked recessive inheritance pattern and is passed on by the mother, pathogenesis -DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys. 4) prognosis - use to be life expectancy up to teen age but with recent advances it can be expected up to 30-40 yrs of age. 5) treatments- steroids, physiotherapy, 6) electromyography can be done 7) DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact, thus leading to muscle weakness, Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves often are enlarged

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