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
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
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