CM- Neuro -12- Neuromuscular disorders
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| What muscle protein is missing in duchenne's dystrophy | dystrophin
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| Which muscular dystrophy is worse duchenne's or becker's | Duchenne's
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| What is the inheritance pattern for duchenne's muscular dystrophy | X-Linked recessive
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| What muscles are first affected in Duchennes Dystrophy | Hip muscles
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| What muscle is often enlarged in duchennes dystrophy | calf muscles
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| What is the prognosis for a pt with duchennes dystrophy | poor most don't survive past ealry 30s as it will eventually affect respiratory muscles and heart
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| T/F muscular dystrophy usually presents with all muscles on same side of the body wasting followed by the progression to the other side | F muscle weakness if usually symmetrical
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| T/F muscular dystrophy affects distal muscles first | F usually affects girdle and proximal muscles first
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| The following describe what type of dystrophy- contractures, ptosis, dysphagia, cognitive impairment, myotonia, cataracts, testicular atrophy, alopecia, cardiac involvement | Myotonic Dystrophy
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| What is myotonia | pt has difficulty releasing grip on obejct from slow relaxation of muscles after voluntary contraction or electrical stimulation
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| T/F myotonia worsens as the muscles are used | F myotonia usually improves after muscles have warmed up
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| What can trigger myotonia in a pt | exposure to the cold
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| What is the tx for myotonia | Qualaquin (quinine), Dilantin (phenytoin), or other anticonvulsants and physical therapy to help muscle function
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| What test can you order to dx myotinic dystrophy | EMG studies- reveal small electrical currents and myotonic discharges
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| What test would you order to confirm dx of myotonic dystrophy | Muscle Biopsy looking for channelopathies
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| What is the tx for muscular dystrophy | maximize activity avoid dependancy of assistive devices if possible get recreational therapy and genetic counseling
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| Pt complains of periodic episodes of paralysis tend to happen in the morning right after waking up, finish eating or exercise. They return to full strength after the attack. What race is your pt likely to be and what are they likely suffering from | Hypokalemic Periodic Paralysis
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| What tx would you order for hypokalemic periodic paralysis | MONITOR EKG, during attack give oral or IV potassium, order a low carb low sodium diet. Acetazolamide might help as well
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| Pt is suffering from HYPERkalemic periodic paralysis what tx can be fiven | IV calcium gluconate, IV diuretics furosemide, glucose and insulin and acetazolmide
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| A female Pt complains of proximal muscle weakness she notice it happened after she got a skin rash what is the likely diagnosis and what labs may help you confirm your suspicion | Dermatomyositis; CK will be elveated 50x normal, muscle biopsy reveals perifascicular atrophy
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| What is dermatomyositis associated with as the underlying cause | often accompanied by underlying malignancy
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| pt has AIDS and is taking AZT they come in complaining of proximal muscle weakness (no rach present) what is their problem | Polymyositis- Cks will be 5-50x normal with muscle biopsy showing inflammation this is likely due to a toxic myopathy from the AZT
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| What is the tx of choice for the acquired inflammatory myopathies such as Polymyositis and Dermatomyositis | Prednisone 2nd line is imuran (azothioprine, or Rheumatrex (methotrexate)
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| What is the most common motor neuron disease | Amyotrophic Lateral Sclerosis
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| What is the progression of amyotrophic lateral sclerosis | muscle weakness begins focally and progresses over months to years to involve all muscles diffusely
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| What are the bulbar s/sx fo amyotrophic lateral sclerosis | difficulty swallowin/chewing, coughing, dysarthria and breathing. Depressed Gag, fasciculation of tongue (cannot move from side to side quickly)
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| What are the s/sx in the limbs of amyotrophic lateral scelrosis | weakness, stiffness, muscle wasting, fasciculations, no sensory changes
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| What will the s/sx be if the motor neuron involved in amyotrophic lateral sclerosis is an upper motor neuron | spasticity, hyperrefelexia, extensor plantar signs (+babiniski)
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| What will the s/sx be if the motor neuron involved in amyotrophic lateral sclerosis is a lower motor neuron | Muscle Weakness, atrophy, fasciculation, cramps
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| What ist he prognosis for a pt who develops amotrohic lateral sclerosis | progressive, fatal disease within 3-5 years death is usually from pulmonary infections
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| Pt has amyotrophic lateral sclerosis that affects Cranial Nerves primarily what is it called | Progressive Bulbar Palsy
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| Typre of amyotrophic lateral sclerosis that affects uper motor nerves and has bilateral corticobulbar disease | pseudobulbar palsy
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| Type of amyotrophic lateral sclerosis that reflects lower motor nerve disorder | progressive spinal muscular atrophy
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| Type of amyotrophic lateral sclerosis that affects purely the Upper motor nerves of the limbs | Primary Lateral Sclerosis
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| What tx can be given to potentially slow progression of amyotrophic lateral sclerosis | Riluzole (rilutek) it reduces the presynaptic release of glutamate
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