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39 Cards in this Set

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difference between becker and duchenne muscular dystrophy
dmd invariably forms a stop codon with a frame-shift mutation in the dystrophin protein
bmd has segmental deletions that are less severe, and there is no coding frameshift
which types of muscular dystrophy has an autosomal dominant inheritance?
fascioscapulohumeral muscular dystrophy
myotonic dystrophy
which type of muscular dystrophy has autosomal recessive inheritance?
limb-girdle dystrophy
describe presentation of fascioscapulohumeral muscular dystrophy?
slowly progressive
non-disabling course
almost-normal life expectancy
sequentially involves muscles in face, scapula, and humerus
difference between hypertrophy and pseudohypertrophy?
hypertrophy begins first where there is compensation by distal muscles of legs (calves)
pseudohypertrophy has the appearance of being enlarged, but has increased fibrous tissue and adipose tissue
what are the 3 types of congenital myopathies?
central core disease
nemaline disease
mitochondrial myopathy
what are hte histological differences between the 3 types of congenital myopathies
central core disease: loss of mitochondria and other organelles in center portion of type 1 muscles

nemaline disease: small rod shaped granules and tangles in type 1 fibers

mitochondrial myopathies: ragged red appearance of muscle fibers
clinical presentation of central core disease
muscle weakness and hypotonia, although affected infants can become ambulatory
clinical presentation of nemaline myopathy
varies from mild, non-progressive dz to severe weakness ending in death from respiratory failure
clinical presentation of mitochondrial myopathy
varies
example of mitochondrial myopathy
kearns-sayre syndrome -->
opthralmoplegia, pigmentary retinopathy, heart block, cerebelar ataxia
pathogenesis of MG
autoantibodies to ACh receptors
clinical presentation of MG
weakness intensified with muscle use, with recovery on rest
effort associated weakness of all muscles (incl extraoc)
ptosis and diplopia common presenting features
difficulty chewing, speaking, swallowing
what is MG associatd with?
tumors of thymus
thymic hyperplasia
Lambert-eaton syndrome
paraneoplastic d/o (most commonly associated with small cell carcinoma of the lung)
similar clinical presentation to MG
mechanism behind Lambert-eaton
ab that react to presynaptic voltage gated ca channels that inhibits the release of ACh
radiographic appearance of osteoporotic bones
radiolucent
what effect do glucocorticoids have on bone
demineralization b/c of overall catabolic effects
cause of von recklinghausen disease of bone
primary or 2ndary hyperparathyroidism
gross appearance of von recklinghausen disease of bone
osteolytic lesions
can be a brown tumor (from hemorrhage, made of bone, cystic spaces, and multinucleated osteoclsts filled with vascular stroma)
bone may appear like osteoporosis
what is the bone alk-phos level in osteoporosis
normal or decreased
what is the bone alk-phos level in von-recklinghausen?
increase
what is the bone alk-phos level in osteomalacia and rickets?
increased or normal
what is the bone alk-phos level in paget dz of bone
markedly increased
cuase of osteomalacia
vitamin d deficiency in adults
cause of rickets
vitamin d deficiency in children
appearance of bone in rickets
decreased calcification and excess accumulation of osteoid --> increased thickness of epiphyseal growth plats and other skeletal deformities
clinical manifestations of rickets
craniotabes
late closing fontanelles
rachitic rosary
harrison groove
pigeon breast
decreased height
what is rachitic rosary
thickening of costochondral junctions --> string of beads appearance
what is harrison's groove?
depression along line of insertion of diaphragm into rib cage
morphology of paget disease of bone
osteolytic phase (osteoclastic resorption predominates)
mixed osteoblastic/osteolytic pase (mosaic pattern)
late phase (bone density increased, thick trabeulae, prominent mosaic pattern)
clinical complications of paget's disease of bone
bone pain resulting from fractures
high output cardiac failure
hearing loss (narrowed auditory foramen)
osteosarcoma
cause of scurvy
vitamin c deficiency -> impaired osteoid matrix formation from lack of pro/lys hydroxylation
manifestations of scurvy
subperiosteal hemorrhage
osteoporosis
epiphyseal cartilage not replaced by osteoid
what is the most common cause of dwarfism
achondroplasia
what is the genetic defect in achondroplasia
mutation in FGF receptor 3 gene (FRFR3) on 4p
what are the different types of fibrous dysplasia
monostotic fibrous dysplasia (solitary lesion)
polyostotic fibrous dysplasia (multiple sites)
mccune-albright syndrome (polycystic fibrous dysplasia, precocious puberty, cafe-au-ait spots on skin, short sttature, YOUNG GIRLS!)
what is fibrous dysplasia
replacement of bone with fibrous tissue
what is the most common cause for ABN?
steroi dinduc d