Besides muscle, which other tissue is dystrophin found in?
Brain and nerves
20
Name 3 x-linked muscular dystrophy conditions
duchenne's Becker, Emery-Dreifuss
15
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
15
Patient with this condition has Distal> proximal muscle weakness, frontal balding, hatchet face, cardiac endocrine abnormality
Myotonic Dystrophy
20
Patient with this condition can move eyes freely but has retinopathy, facial weakness, frontal balding, lip protrusion .
FSH ( Landouzy-Dejerine)
20
This 60 y.o. with RA , developed progressive proximal muscle weakness but normal EMG. What is likely condition?
Steroid myopathy
20
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
20
Name 2 conditions that could cause this.
Central core, centronuclear myotubular,nemaline rod, fiber disproportion
25
This patient is at risk formalignant hyperthermia due to absent of ---- in type 1 fibers
Central core- absent of mitochondria
15
This patient has difficulty getting up from a chair or climbing steps