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55 Cards in this Set

  • Front
  • Back

What are the MCC of rhabdomyolysis?

1. Nueroletpic malignant syndrome


2. Malignant hyperthermia


3. Crush or blast injuries

What is involved in Duchenne's muscular dystrophy?

1. Cardiac muscle


2. Deltoid/infraspinatus


3. Calves

What is the inheritance of Duchenne's?

1. Sex-linked recessive

How do you dx Duchenne's?

1. 3-5 years-- waddling gait and lordosis


2. Gower's sign


3. Death by 20

What labs can you run for Duchenne's?

1. CPK extremely elevated (highest of all)


2. EKG--- abnormal in 80%


3. Genetic testing for dystrophin

What sex does Becker's affect?

1. Male--- x-linked recessive

What is the onset of Becker's MD?

1. 5-15 y/o

What are the ssx of Becker's?

1. Same as Duchenne's, but milder

What are the lab results for Becker's?

1. Serum CPK elevated 20-80x


2. ECG abnormal in 30-40%


3. EMG is myopathic

What is involved in facioscapulohumeral dystrophy?

1. Vere severe early weakness and wasting of spinates, trapezius, and pectoralis

What is the inheritance of facioscapulohumeral dystrophy?

1. Autosomal dominant

1. Facioscapulohumeral dystrophy

What are the lab results in facioscapulohumeral dystrophy?

1. Serum CK elevated


2. EMG shows it is myopathic


3. Muscle bx shows no pathognomonic findings

What is the gene deletion in facioscapulohumeral dystrophy?

1. 4q35

What is involved in limb-girdle dystrophy?

1. Hip flexors and glutei weak early in disease


2. Early wasting of medial quadriceps and tibialis anterior


3. Symmetrical proximal weakness, but spares facial muscles

What is the inheritance of limb-girdle dystrophy?

1. AD and AR

What are the lab results for limb-girdle dystrophy?

1. CPK 10x normal


2. Myoglobinuria

What is the MC adult MD?

1. Myotonic dystrophy

What is involved in myotonic dystrophy?

1. Early frontal baldness


2. Cardiac muscle


3. Multisystem

What is the inheritance of myotonic MD? On what chromosome is the abnormality found?

1. AD


2. Chromosome 19

What is anticipation in myotonic MD?

1. Increasing length of trinucleotide repeat sequence for coding of myotonic protein kinase


2. Shows up earlier and is more severe in later generations

What are the clinical features of myotonic MD?

1. Hatchet faced


2. Distal>proximal weakness


3. Frontal balding


4. Myotonia on examination

What are the ssx of myotonic MD in babies?

1. Baby won't open eyes after getting face washed


2. Have characteristic V shaped mouth

What is the first test you should run on a patient with myotonic MD?

1. Baseline EKG--- look for conduction abnormalities

What is deficient in McArdle's disease?

1. Myophosphorylase

What are the ssx of McArdle's disease?

1. Exercise intolerance


2. Myalgia


3. Cramps


4. **Myoglobinuria, rhabdo, RF

What are the lab results of McArdle's disease?

1. CPK increased


2. K increased


3. Uric acid increased

How do you dx McArdle's disease?

1. Ischemic forearm exercise test


2. Draw samples at regular intervals during exercise


3. No rise in lactic acid

What should you avoid in McArdle's disease?

1. General anesthesia

How do you tx McArdle's disease?

1. Avoid intense exercise


2. Have a candy bar on hand

What is deficient in hypokalemic periodic paralysis?

1. CaV or ligand-gated Na channel

What are the ssx of hypokalemic periodic paralysis?

1. Attacks of paralysis upon awakening or after resting following strenuous exercise


2. Or after a heavy carbohydrate meal

What are the lab results in hypokalemic periodic paralysis?

1. Low serum K


2. Abnormal EMG

How do you tx hypokalemic periodic paralysis?

1. KCL


2. Avoid high carb meals

What is deficient in hyperkalemic periodic paralysis?

1. NaV channels

What are the ssx of hyperkalemic periodic paralysis?

1. Proximal muscle weakness <2 hours after exercise and during fasting

What are the lab results in hyperkalemic periodic paralysis?

1. High serum K

How do you prevent hyperkalemic periodic paralysis?

1. Low K diet


2. Avoid dieting


3. Ingestion of carbs and slight exercise at onset of weakness


4. Thiazide or acetazolamide

What is deficient in myotonia congenita?

1. Chloride channel

What are the ssx of myotonia congenita?

1. Painless muscle stiffness


2. Myotonia at birth--- peculiar cry, difficulty feeding, inability to re-open eyes while having face washed


3. Myotonia worse in cold

How do you tx myotonia congenita?

1. Procainamide


2. Quinidine

What is deficient in malignant hypothermia?

1. Ligand-gated Ca channel

What triggers malignant hyperthermia?

1. Exposure to certain drugs during general anesthesia--->


2. Volateile anesthetic agents


3. Succinylcholine

What are the ssx of malignant hyperthermia?

1. Marked hyperthermia


2. Marked rigidity


3. Tachycardia


4. Tachypnea


5. Hyperkalemia, acidosis, myoglobinuria

How do you tx malignant hyperthermia?

1. Dantrolene (muscle relaxant)


2. Stop anesthesia


3. Start cooling procedures

What are the ssx of polymyositis?

1. No muscle pain +/- minimal muscle tenderness


2. Pain without muscle weakness=polymyalgia rheumatica


What are the lab results in polymyositis?

1. Elevated: CPK, aldolase, ESR, and CRP

How do you tx polymyositis?

1. Prednisone


2. Azathioprine


3. Methotrexate

What are the ssx of dermatomyositis?

1. Helitrope rash


2. Symmetric proximal muscle weakness


​3. Gorton's papules on knuckles


What should you check for in dermatomyositis?

1. CANCER

How do you dx dermatomyositis?

1. Muscle bx

How do you tx dermatomyositis?

1. Prednisone


2. Methotrexate

What are the ssx of inclusion body myositis?

1. Proximal and distal muscle weakness


2. Chronic onset

How do you dx inclusion body myositis?

1. Muscle bx


2. Usually patient thought to have polymyositis but does not respond to steroids

What labs should you run for muscle disease?

1. CPK


2. TFTs


3. ESR


4. CRP


5. EKG