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104 Cards in this Set
- Front
- Back
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What is ARTHROGRYPOSIS?
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Fixed deformity of the extremities due to intrauterine HYPOMOBILITY -may occur in newborns d/t:
- myopathies - muscular dystrophies - oligohydramnios |
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Traditionally in a MYOPATHY the EMG will show SHORT DURATION, SMALL AMPLITUDE MUAPs... but sometimes they will show LONG duration, LARGE amplitude MUAPs, why?
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LDLA MUAPs represent COLLATERAL SPROUTING
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What will REP STIM show in a myopathy?
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Normal or...
DECREMENT - d/t reduced safety factor from immature regenerating NMJ forming during reinnervation or recovery |
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What will a muscle Bx show in STEROID myopathy?
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Type II fiber atrophy
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What will a muscle Bx show in MYASTHENIA GRAVIS?
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Type II fiber atrophy
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What will a muscle Bx show in DECONDITIONING?
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Type II fiber atrophy
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What will a muscle Bx show in MYOTONIC DYSTROPHY?
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Type I fiber ATROPHY
Type II fiber HYPERTROPHY |
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What will a muscle Bx show in NEMALINE ROD MYOPATHY?
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Type I fiber atrophy
+ ROD shaped bodies in GOMORI TRICHROME stain |
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What will a muscle Bx show in fiber type disproportion myopathy?
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Type I fiber atrophy - small but numerous
Type II fibers - normal to large sized |
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What is the most common myopathy?
What is the 2nd most common? |
1. DUCHENNE MUSCULAR DYSTROPHY
2. MYOTONIC DYSTROPHY (Steinert's) |
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Inheritance pattern of DUCHENNE?
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X-linked RECESSIVE (XP21!!!)
*Can also be spontaneous mutation |
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Inheritance pattern of Becker Muscular Dystrophy?
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X-linked RECESSIVE
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Inheritance pattern of MYOTONIC DYSTROPHY (Steinert's)?
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Auto DOMINANT
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Inheritance pattern of FACIOSCAPULOHUMERAL DYSTROPHY?
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Auto DOMINANT
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Age of onset for DUCHENNE?
What is the progression like? |
3-5 years old
SEVERELY progressive (death by 20 yo) |
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Age of onset for Becker MD?
What is the progression like? |
ADULTHOOD
Slowly progressive |
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Where is the first contracture likely to occur in a patient with DUCHENNE?
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IT BAND
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What can be expected in terms of long term mobility with most DUCHENNE patients?
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Wheel chair by 12 YEARS OLD
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Besides the musculoskeletal system, what other systems are affected in DUCHENNE?
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- HEART - cardiomyopathy
- BRAIN - mental retardation - Respiratory - RESTRICTIVE lung disease d/t scoliosis |
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In a DUCHENNE patient with scoliosis, when is surgical intervention indicated?
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Before VITAL CAPACITY is below 35% of normal
(usually happens when curvature is >30 DEGREES) |
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What blood work abnormalities will be seen in DUCHENNE?
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INCREASED CPK & aldolase
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MEMBRANE INSTABILITY on EMG exam is most common in which dystrophic myopathy?
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FACIOSCAPULOHUMERAL DYSTROPHY
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What will a muscle Bx show in FSHD
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Scattered necrosis & regeneration +/- inflammatory infiltrate.
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How do you treat MYOTONIC DYSTROPHY? |
Bracing Possible pacemaker Medications (PDQ): - procainamide - dilantin - quinine |
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What does the mutation in MYOTONIC DYSTROPHY cause to happen on a molecular level?
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CTG (cytosine-thymine-guinine) repeats
- shows genetic anticipation |
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Almost all DYSTROPHIC MYOPATHIES manifest themselves as PROXIMAL weakness with the exception of which one?
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MYOTONIC DYSTROPHY
-weakness starts distal |
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Name 3 hallmark signs of CONGENITAL MYOTONIC DYSTROPHY
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1. SHARK MOUTH appearance
2. bilateral FACIAL paralysis (DIPLEGIA) 3. CLUB FOOT (talipes equinovarus) *Respiratory issues are the biggest concern |
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What does a patient with MYOTONIC DYSTROPHY typically look like?
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"HATCHET FACE" - temporalis & masseter atrophy
FRONTAL BALDING PTOSIS - Probably also wearing glasses - POOR VISION |
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IQ is affected in which dystrophic myopathies?
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DMD
Becker Myotonic Dystrophy (Steinert's) |
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Age of onset for Facioscapulohumeral Dystrophy (FSHD)?
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Childhood-early adult
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"POPEYE" arm is associated with which dystrophic myopathy?
What causes it? |
FSHD - facioscapulohumeral dystrophy
Arm ATROPHY with SPARING of DELTOID & FOREARM muscles |
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#1 muscle to test if you suspect FACIOSCAPULOHUMERAL DYSTROPHY?
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Tibialis anterior
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Name 6 facial symptoms of FSHD
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- transverse smile
- weak eye closing - weak forehead wrinkling - facial DROOP - lip protrusion - testicular balding *Also unable to whistle |
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Besides MSK system what other organ systems does FSHD affect?
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OCULAR
- CATARACTS - RETINOPATHY Reproductive - Testicular atrophy |
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Muscle Bx shows scattered necrosis & regeneration +/- inflammatory infiltrate, which dystrophic myopathy is it?
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FSHD
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Inheritance pattern of CENTRAL CORE DISEASE?
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Auto DOMINANT
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Inheritance pattern of NEMALINE ROD MYOPATHY?
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Auto DOMINANT/RECESSIVE
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Inheritance pattern of CENTRONUCLEAR MYOPATHY?
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X-linked RECESSIVE
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Inheritance pattern of FIBER TYPE DISPROPORTION?
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Variable
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Onset of ALL congenital myopathies?
Name them |
INFANCY
Central Core Nemaline Rod Centronuclear Fiber type disproportion |
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Which congenital myopathy is associated with MALIGNANT HYPOTHERMIA?
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Central CORE
think CORE = body, core temperature, hypothermia |
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What will a muscle Bx show in central core disease?
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TYPE I FIBERS will have CENTRAL CORES
- NO MITOCHONDRIA |
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What will a muscle Bx show in CENTRONUCLEAR MYOTUBULAR myopathy?
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Central location of nuclei in skeletal muscle cells
- these should normally be at the periphery Also marked variability in fiber size |
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Which congenital myopathy is most likely to show MEMBRANE INSTABILITY on EMG?
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CENTRONUCLEAR MYOPATHY
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Which congenital myopathy is associated with DEATH DUE TO RESPIRATORY FAILURE?
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Nemaline Rod Myopathy
- Respiratory insufficiency is also associated with centronuclear myopathy |
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Which congenital myopathy is associated with DIFFUSE weakness?
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Nemaline Rod
*legs, arms, trunk, face, throat |
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Which congenital myopathy is associated with PROXIMAL weakness?
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Central Core - think core, close to the body, proximal
Nemaline Rod - arms, legs, trunk + FACE & THROAT |
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Which congenital myopathy is associated with a NARROW/LONG face & HIGH ARCHED PALATE?
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Nemaline Rod
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Which congenital myopathy is associated with weakness in the arms, legs, trunk, THROAT, & FACE?
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Nemaline Rod
- Remember, long/narrow face - High arch palate - Respiratory failure leading to death |
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Hypernasal speech is often a feature of which congenital myopathy?
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Nemaline Rod
- high arched palate |
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Which congenital myopathy is associated with PTOSIS, FACIAL DIPLEGIA, DYSPHAGIA, & EXTROCULAR MUSCLE INVOLVEMENT?
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Centronuclear
- Also may have respriatory insufficiency, although this is more of a fatal concern in Nemaline Rod myopathy |
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Which congenital myopathy is associated with proximal weakness that is GREATER IN THE LEGS than the arms? |
Fiber Type Disproportion
- Hip contractures, hip dislocations
*Quads are usually relatively preserved |
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Name the 3 most common INFLAMMATORY myopathies
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1. Polymyositis
2. Dermatomyositis 3. Inclusion body myositis |
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Which inflammatory myopathy is associated with SYMMETRIC weakness?
Proximal or distal? |
Polymyositis/dermatomyositis
-proximal (HIPS then shoulders) |
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Which inflammatory myopathy is associated with ASYMMETRIC weakness?
Proximal or distal? |
Inclusion body myositis
- BOTH proximal & distal! *Painless |
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Which inflammatory myopathy is associated with POLYNEUROPATHY?
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Inclusion body myositis
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What is GOTTRON'S sign? What is it associated with?
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Red/purple patches over the knuckles, elbow, knees
DERMATOMYOSITIS |
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Polymyositis/dermatormysoitis spares which muscle groups?
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FACIAL & OCULAR muscles are spared
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Which inflammatory myopathy is associated with ABNORMAL SNAPs & CMAPs on NCS study?
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Inclusion body myositis
*Due to polyneuropathy |
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Which inflammatory myopathy responds to STEROID treatment?
- Additional treatments? |
Poly/dermatomyositis
- plasmapheresis, cytotoxic agents, rest |
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Which inflammatory myopathy is REFRACTORY to steroid treatment?
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Inclusion body myositis
- there really is no good treatment for this |
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What will a muscle Bx show in Poly/dermatomyositis?
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Type I fiber NECROSIS
Type II fiber NECROSIS +perifascicular ATROPHY |
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What will a muscle Bx show in Inclusion body myositis?
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Rimmed vacuoles
Basophilic vacuoles EOSINOPHILIC INCLUSION BODIES |
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What is the most common inflammatory myopathy in the ELDERLY?
Which sex is more pone to develop it? |
INCLUSION BODY
MEN |
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McArdle's disease is a deficiency of what?
What is the age of onset? |
Myophosphorylase
<15 years old |
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Pompe's disease is a deficiency of what?
What is the age of onset? |
ACID MALTASE
Infant to adult |
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Inheritance pattern of Pompe's disease?
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Autosomal RECESSIVE
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Inheritance pattern of McArdle's disease?
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Autosomal RECESSIVE
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Which metabolic myopathy shows DEATH by age 2?
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Pompe's if it is infant onset
*if adult onset, it's much milder |
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Which metabolic myopathy is associated with TONGUE ENLARGMENT?
What other systems are affected? |
Pompe's
- HEART - cardiomegaly - LIVER - hepatomegaly - LUNGS - respiratory insufficiency |
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Which metabolic myopathy is associated with EXERCISE INTOLERANCE?
What will continued strenuous exercise lead to? |
McArdle's
- MYOLYSIS - which can lead to RENAL FAILURE & DEATH |
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What is "SECOND WIND PHENOMENON"? Which metabolic myopathy is it associated with? |
Brief rest improves weakness/fatigue in those with MCARDLE's DISEASE |
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What are the NCS/EMG findings like in McArdle's disease?
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This is a metbolic MYOPATHY so...
SNAP - normal CMAP - normal EMG will show ELECTRICAL SILENCE during an attack (CONTRACTURE) |
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What are the NCS/EMG findings like in Pompe's disease? |
This is a metbolic MYOPATHY so... SNAP - normal CMAP - normal
EMG = SDSA MUAPs, membrane instability |
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What will a muscle Bx show in McArdle's disease?
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excess GLYCOGEN
no phosphorylase |
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What will a muscle Bx show in Pompe's disease?
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VACUOLES in type I & II fibers
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What will blood work show in Pompe's disease?
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Increased CK during attacks
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What body fluid can be tested to aid in the diagnosis of McArdle's disease?
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URINE
- MYOGLOBINURIA |
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What will blood work show in Inclusion Body Myositis?
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Increased CK
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What will blood work show in Polymyositis/dermatomyositis?
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Increased
- CPK - ESR - aldolase - LDH, ALT, AST |
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Inheritance pattern for HYPO & HYPER kalemic periodic paralysis?
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Both are AUTO DOMINANT
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Age of onset for HYPERkalemic period paralysis?
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childhood to 2nd decade
*starts EARLIER than HYPOkalemic |
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Age of onset for HYPOkalemic period paralysis? |
early 2nd decade *starts LATER than HYPER |
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Pattern of weakness in HYPERkalemic periodic paralysis?
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PROXIMAL
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Pattern of weakness in HYPOkalemic periodic paralysis?
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starts in LEGS and then spreads proximally
*starts LOWER than HYPER |
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HYPER or HYPO kalemic period paralysis?
Attacks last 10-60 minutes |
HYPER
- SHORTER than hypo |
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HYPER or HYPO kalemic period paralysis?
Attacks last 12-24 HOURS |
HYPO
- LONGER than hyper |
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HYPER or HYPO kalemic period paralysis?
Treat with HIGH CARB DIET |
HYPER
- glucose causes cells to ABSORB potassium, lowering the level of K+ in the blood |
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HYPER or HYPO kalemic period paralysis?
ELECTRICAL SILENCE on EMG during an attack |
HYPO
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HYPER or HYPO kalemic period paralysis?
SDSA MUAPs, membrane instability on EMG during an attack |
HYPER
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HYPER or HYPO kalemic period paralysis?
Exacerbated by COLD TEMPERATURES |
HYPER
- COLD disables Na/K pump in blood cells, K+ does not get pumped into cells and remains in blood at a high level (normally 2K in/3Na out) |
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HYPER or HYPO kalemic period paralysis?
Attacks may be aborted with EXERCISE |
HYPER
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HYPER or HYPO kalemic period paralysis? Myotonia in the EYELIDS |
HYPO |
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HYPER or HYPO kalemic period paralysis?
EXACERBATED by a HIGH CARB diet |
HYPO
- glucose causes cells to ABSORB potassium, worsening an already low blood level of K+ |
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What is the age of onset for Myotonia Congenita?
What is another name for this myopathy? |
Birth-adulthood
"Thomsen's disease" "Little Hercules" |
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Which myopathy exhibits SEVERE MUSCLE SPASMS exacerbated by the COLD?
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- HYPERkalemic periodic paralysis
- MYOTONIA CONGENITA - PARAMYOTONIA CONGENITA *both may improve with warmth & exercise |
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MYOTONIA withOUT weakness?
What about with weakness? |
Myotonia Congenita - NO WEAKNESS (muscle hypertrophy)
Paramyotonia Congenita - WEAKNESS |
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Treatment for PARAMYOTONIA CONGENITA?
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WARM the extremities
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Treatment for MYOTONIA CONGENITA?
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PDQ
- Procainamide - Dilantin - Quinine |
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What causes myotonia congenita?
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Mutation in the gene that encodes for CHLORIDE CHANNELS (channelopathy)
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How long does it take STEROID myopathy to develop after steroid use?
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Weeks to years
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How does STEROID myopathy present?
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PROXIMAL weakness -usually more severe in the LEGS
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What findings on NCS/EMG are exhibited in STEROID myopathy?
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This is a myopathy so NCS is normal. EMG will also be normal because only TYPE II FIBERS are affected, which are not clearly evaluated on needle EMG.
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Which congential myopathy is the MOTHER always affected in?
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Congenital Myotonic Dystrophy
-autosomal dominant |
