Study

Myopathy

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  • Name 3 x-linked muscular dystrophy conditions
    duchenne's Becker, Emery-Dreifuss
  • Histologically, in advanced cases muscle fibers are replaced by fibrofatty tissue in which condition
    Muscular dystrophy
  • Which muscle type is more dependent on fat catabolism for energy through mitochondrial oxidative phosphorylation
    Type 1
  • EMG study of this condition showed electrical silence when the muscle is cooled
    Paramyotonia Congenita
  • Besides muscle, which other tissue is dystrophin found in?
    Brain and nerves
  • In this Autosomal recessive muscle dystrophy, patient has UE and LE proximal weakness and scattered fiber necrosis and regeneration seen on muscle biopsy
    Limb Girdle
  • This 12 y.o boy c/o pain from muscle spasm, worse in the winter
    Thomsen Disease
  • Grouped muscle atrophy is a hallmark of which type of atrophy
    Neurogenic atrophy
  • Disuse- and steroid-induced atrophy primarily affects which TYPE fibers and causes a random distribution of the atrophic myofibers
    Type 2
  • Patient with this condition has Distal> proximal muscle weakness, frontal balding, hatchet face, cardiac endocrine abnormality
    Myotonic Dystrophy
  • Patient with this condition can move eyes freely but has retinopathy, facial weakness, frontal balding, lip protrusion .
    FSH ( Landouzy-Dejerine)
  • what are three x-linked Dystrophic Myopathies
    Duchenne/Becker/Emery Dreifuss
  • This patient has difficulty getting up from a chair or climbing steps
    Dermatomyositis
  • What are three histolology features of Duchenne Dystropy
    Muscle size variation, absent of dystrophin, incr connective tissue, regeneration, fiber loss, adipose infiltration
  • This sign describes a patient that has to use their hands and arms to "walk" up their own body from a squatting position due to lack of hip and thigh muscle strength.
    Gower's sign
  • Name a condition that affects the ability to breakdown Glycogen--> glucose
    Mc Ardle (myophosphorylase) , Pompe ( Acid Maltase)
  • 52 y.o man has painless progressive muscle weakness
    Inclusion body Myositis
  • This 60 y.o. with RA , developed progressive proximal muscle weakness but normal EMG. What is likely condition?
    Steroid myopathy
  • This person reports being "paralyzed" after exercise, but felt better after eating Oreos and crackers and chocolate
    Hyperkalemic periodic paralysis
  • This patient is at risk formalignant hyperthermia due to absent of ---- in type 1 fibers
    Central core- absent of mitochondria
  • Name 2 conditions that could cause this.
    Central core, centronuclear myotubular,nemaline rod, fiber disproportion