3 (Myopathy)

Question 1

Types of myopathies? (7)

Answer 1

Endocrine, Toxic, Periodic, Muscular dystrophy, myotonic dystrophy, metabolic, Inflammatory

Question 2

Endocrine myopathy (5)

Answer 2

cushing, hypothyroid, thyrotoxicosis, Acromegaly, low Vit D

Question 3

Toxic Myopathy (4)

Answer 3

Statins, Steroids, Colchicine, Alcohol

Question 4

Periodic Myopathy (3)

Answer 4

Hypokalemic, Hyperkalemic, Paramyotonia ( cold induced )

Question 5

Duchenne familial Pattern?

Answer 5

X linked recessive

Question 6

Duchenne Physiopathology?

Answer 6

dystrophin, Xp21, connects muscle membrane to actin, frame shift, loss of 1-2 binding sites

Question 7

Duchenne Signs symptoms?

Answer 7

proximal myopathy, calf pseudohypertrophy, Gower’s sign, ⅓ intellectual impairment

Question 8

Duchenne Prognosis?

Answer 8

wheelchair in teens, Dies before 25

Question 9

Becker’s Familial Pattern?

Answer 9

X linked recessive

Question 10

Becker’s Physiopatholgy?

Answer 10

non frameshift, preservation of both binding sites

Question 11

Becker’s Onset

Answer 11

early childhood age of 10

Question 12

Becker’s symptoms

Answer 12

hypertrophy calves

Question 13

Facioscapulohumeral Familial pattern:

Answer 13

autosomal dominant

Question 14

Facioscapulohumeral Symptoms:

Answer 14

Facial weakness, winging scapula, Proximal upper limb weakness, foot drops, hip weakness

Question 15

Limb Girdle muscular atrophy Familial Pattern:

Answer 15

Autosomal dominant

Question 16

Myotonic dystrophy Familial Pattern:

Answer 16

Autosomal dominant

Question 17

Myotonic dystrophy chromosome pattern:

Answer 17

CTG chromosome 19, Genetic anticipation

Question 18

Myotonic dystrophy Symptoms

Answer 18

Unable to let go of handgrip, ptosis, cataract, facial weakness, cranial nerve, temporalis/testicular atrophy, frontal balding, low IQ, DM, haggard appearance, AF heart block, foot drop, distal weakness, reduced reflex

Question 19

Myotonic dystrophy EMG

Answer 19

EMG: Dive bomber effect ( waxing and wanin potentials )
1: Forearm, Face, distal weakness
2: Neck, finger, proximal weakness

Question 20

Myotonic dystrophy complications and monitor

Answer 20

sleep apnea, cardiac, diabetes
Monitor: ECG ( arrhythmia, heart block )

Question 21

Name of Metabolic myopathy

Answer 21

McArdle

Question 22

Describe McArdle

Answer 22

Young who gets painful muscle with exercise, relieved if stops, rhabdomyolysis myoglobinuria and high CPK

Question 23

Diagnosis of McArdle

Answer 23

genetic testing ,muscle biopsy or serum lactate post exercise

Question 24

Treatment Mcardle

Answer 24

carbohydrate diet, sucrose 5 mins before exercise

Question 25

Inflammatory Myopathy?

Answer 25

Polymyositis, Dermatomyositis, Inclusion body Myositis

Question 26

Polymyositis

Answer 26

proximal myopathy, ⅓ muscle pain, CPK, spontaneous activity in EMG, definitive diagnosis: endomysial infiltration in Biopsy

Question 27

Dermatomyositis

Answer 27

Heliotrope rash, anti Mi-2, perimysial infiltrates, perifascicular atrophy,

Question 28

Inclusion body Myositis

Answer 28

old, male, Finger/wrist flexor/quadriceps, slow progressive weakness, difficulty walking and dysphagia, CPK NL or up 5X, inflammatory myopathic changes in EMG ( insertional/spontaneous/low amplitude/short duration), CD8, No treatment