Muscular Dystrophy Flashcards
S3Q2
DYSTROPHY: DMD
pathology
etiology - gene, sex
sx - (5) + which first, sign (age & how)
prognosis - life expectancy + death cause
timeline #1 - age, 2 sx where (2.2), extra sx
timeline #2 - age, AD (1.1=2), complication (1->1)
tx - where, no what
- patho: no dystrophin (structure of plasma membrane in myogenic/muscle cells) -> microtrauma = bye
- eti: x-linked, XP21
- prog: 18-25y d/t weak respiratory muscles
- tx: POOL; no mechanical (microtrauma)
signs/sx
- progressive weakness, proliferation of CT in muscles, hypertrophy in calves, loss of head control (1st), intellectual impairment
- gower’s sign: 3y, prone -> sit
timeline: 3-5y
- normal, weak (LE>UE, glutmax), contracture (LE>UE, distal to proximal)
- (+) gower’s sign
timeline: 10-12y
- w/c (motorized or joystick)
- scoliosis -> restrictive lung disease
- apnea = BIPAP, CPAP
DYSTROPHY: Becker
pathology
onset
life expectancy
contracture
scoliosis
MR
- no dystrophin
- onset: 10-15y
- life: mid-adult
- contracture: early | late
- scoliosis: faster | slower
- MR: (+) | (-)
DYSTROPHY: Emery
pathology
etiology - gene, sex
prognosis + life expectancy
onset
sx - muscles (2.1.2), sx (5), lab (2)
mx (2)
muscle: weak wasting spared
- patho: no emerin (in muscle cell)
- eti: x-linked, XQ28
- prog: slow progression, live til adult
- onset: 5-15y
signs/sx
- selective weakness in scapulohumeral & peroneal, wasting in biceps, spared forearm & deltoid
- hypertrophy, myotonia, weak face, severe cardiomyopathy
- contracture of elbow & knee
- lab: muscle biopsy; elevated serum CK
mx
- supportive, cardio
DYSTROPHY: FSH
epidemiology (sex)
onset (3)
sx (4)
sx: 3.1
- epi: M=F
- onset: late school age, adolescence, 10y
- sx: can’t wrinkle forehead, whistle, close eyes, raise arms
DYSTROPHY: Limb Girdle
vs. DMD (severity & trend)
onset
sx (3)
complication (1.1)
- less common & severe than DMD
- onset: >7y
signs/sx
- pseudohypertrophy of calves
- equinus, varus
- scoliosis > cardio
DYSTROPHY: Myotonic
myotonic dystropy - (1=2), sex
myotonic muscular - other name, sx (3) + muscle (2)
myotonic chondrodystrophy - other name, sx (6)
- myo (muscle) tonic (spasm) trophy (nourish)
- poor nourishment = contracted/can’t relax
MYOTONIC MUSCULAR/STEINERT’S
- sx: round thin cheeks, inc temporal concavity, inverted v-lip (triangle)
- weak oropharyngeal & temporal muscles
- autosomal dominant
MYOTONIC CHONDRODYSTROPHY/SWARTZ-JAMPEL
- sx: dwarfism, herculean, micrognathia (jaw/mandible), microstomia (mouth), low ears
DYSTROPHY: Myotonic
myotonia congenita - other name (2), sx (1)
paramyotonia - other name, where (2)
CONGENITA/THOMSEN’S/INFANTILE HERCULES
- sx: normal growth spurt
PARAMYOTONIA/EUDENBERG
- hands & face
DYSTROPHY: Myotonic
sx for all (1) + hallmark
tx - (4) + parameters, don’t what, duration
sx
- general weakness
- hallmark: hypertrophy
tx
- ROM
- strengthening (2-3x/wk)
- aerobics (low to mod, 10 mins)
- orthosis
- 2h 30 mins throughout week
- too much exercise = hasten progression
- mid-afternoon, NO cold
DYSTROPHY: Hydrocephalus
ventricles - (4) + location, journey (1.1.1.2.1.1), each ventricle has what
sx (2) + chronic (3)
tx - intensity, position, AD
- lat ventricle (cerebrum), 3rd & 4th (thalamus), aqueduct of sylvius (midbrain)
- lat -> monro -> 4th -> foramen of lushka (lat) & magendie (medial) -> central canal -> spine
- each ventricle has choroid plexus (can make own CSF)
signs/sx
- sunset sign, crackpot sign
- chronic: ataxia, incontinence, dementia
tx
- low to mod, supine
ventriculoperitoneal shunt
DYSTROPHY: Hydrocephalus
communicating - pathology/structure, if reach what then what
non-communicating - etiology + structure, lead to what where
hydrocephalus ex vacuo (2=1)
normal brain size vs. smaller
COMMUNICATING
- no reabsorption at arachnoid villi/granulations
- if reach spine = severe
NON-COMMUNICATING
- lesion at foramen monro = CSF stuck in lat ventricle (intraventricular hemorrhage) but 3rd & 4th can still supply CNS
HYDROCEPHALUS EX VACUO
- dec cerebral tissue d/t malformation or atrophy = inc volume, same pressure
- inc vol, inc size, inc pressure = normal size
- inc vol, same size, same pressure = atrophied brain
DYSTROPHY: Chromosomal
trisomy 21 - other name (2), sx (12)
trisomy 18 - other name, lifespan (3) sx (3.3.2)
TRISOMY 21/MONGOLIAN/DOWN
- flat occiput, oblique palpebral fissure, epicanthic folds, speckled iris
- septal defect
- variable IQ, AA subluxation
- small acetabulum & ilium, dec penis, cryptorchidism (testes)
- simean crease, small bound hands
TRISOMY 18/EDWARD’S
- lifespan: 1y (F=7m, M=2m)
- hypertonia, MR, BW
- micrognathia, low ears, prominent occiput
- camptodactyly, talipes equinovarus
DYSTROPHY: Chromosomal
trisomy 13 - lifespan, sx (2.2.3)
trisomy 15 - other name (2), lifespan, sx (2)
trisomy 4 - other name, lifespan, sx (2.2)
TRISOMY 13
- prog: F>M
- microcephaly, microthalmia
- MR, apnea
- polydactyly, semian crease, hypoplasia nails
TRISOMY 15/CRI DU CHAT/CAT CRY
- prog: 2y
- high pitch cry, microcephaly
TRISOMY 4/WOLF
- prog: 2y
- psychomotor, MR
- congenital heart disease, kidney
DYSTROPHY: Chromosomal
prader willi - sx (3)
turner - other name (3), epidemiology (sex), sx (3.4)
PRADER WILLI
- hyperphagia
- hypotonic, hypometria
TURNER/XO/BU/GONADAL DYSGENESIS
- epi: F>M
- obtunded growth, early osteoporosis, underdeveloped breast, webbed neck
- cubitus valgus, radial head & patellar dislocation
DYSTROPHY: Chromosomal
klinefelter - other name (1), sx (1.3)
XXX female - sx (1)
KLINEFELTER/XXY
- normal brain
- passive, bye gonads = bye libido
XXX FEMALE
- normal gonads
