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31 Cards in this Set
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- Back
- 3rd side (hint)
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Weakness, calf pseudohypertrophy, serum CK 20 x normal
Waddling gait, Gower's sign respiratory therapy by age 20 X-linked recessive, onset at adolescence Dystrophin is absent |
Duchenne MD
See varied fiber size, atrophy, fibrosis, and fatty build-up |
Disease
Pathologic findings |
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Waddling gait, calf pseudohypertrophy, weakness
Onset after age 12, still walking at 20 Elevated CK Dystrophin is mutated |
Becker MD
See varied fiber size, atrophy, fibrosis, and fatty build-up |
Disease
Pathologic findings |
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Multi-system disease
Myotonia, cardiomyopathy, cataracts, endocrinopathy Balding, temporal wasting, elevated CK Distal to proximal weakness Glucose intolerance, gonadal atrophy |
Myotonic MD
Autosomal dominant |
Disease
Pathologic findings |
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Floppy Baby
Slow progression Nemaline rods made of Z-band material and centronuclear myopathy |
Congenital myopathy
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Disease
Pathologic findings |
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Aggregates of mitochondria seen on Gomori trichrome stain
Crystilline mitochondria |
Mitochondrial myopathy
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Myophosphorylase deficiency
Glycogen accumulation in fibers with PAS stain |
McArdles disease
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Lipid accumulation in cells seen with Oil Red O or Sudan black stain due to carnitine or CPT deficiency
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Lipid storage myopathy
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PFK deficiency
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Tauris disease
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Toxic myopathies
(2) |
HMG-CoA reductase inhibitor necrotizing myopathy
Steroid myopathy leads to proximal weakness of type II fibers |
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Autoimmune muscle inflammation
Proximal muscle weakness; dysphagia NO RASH Increased CK Muscle biopsy shows CD8+ and macrophages |
Polymyositis
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Rash
Severe weakness Over 40 associated with cancer Lilac colored eyelids, periorbital edema, scaly patches on knees/elbows Perifasicular atrophy, CD4+ and B-cells attacking capillaries |
Dermatomyositis
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Distal weakness
Men over 50 y/o Rimmed vacuoles, nuclear and cytoplasmic inclusion bodies No response to immunosupressants |
Inclusion body myositis
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Fluctuating weakness involving ocular and facial muscles
Dysarthria, dysphagia, respiratory weakness Severe type II fiber atrophy |
Myasthenia gravis - autoimmune attack on ACh receptors
OR Lambert-Eaton syndrome - attack on Ca channels |
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Wallarian degeneration
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Transection of an axon leads to myelin and then axon degeneration of the distal fiber
Soma becomes rounded, nucleus moves to periphery, ribosomes dissapate |
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Acute onset beginning with distal symmetrical weakness and paresthesia
Autonomic dysfunction, hyporeflexia Slowed nerve conduction Recent cold/viral infection Normal CSF w/ few lymphocytes |
Guillian-Barre syndrome
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Charcot-Marie-Tooth syndrome
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Inherited sensory and motor neuropathy
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Uncontrolled glucose levels
Distal symmetric polyneuropathy Sensory deficit Autonomic dysfunction Axonal degradation, hyelinizaton of arterioles |
Diabetic neuropathy
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Hyperreflexia with atrophy and fasiculations
In-tact sensory, bladder function, eye movements Autosomal dominant superoxide dismutase mutation See Bunina bodies in neurons Ubiquitin and hyaline Loss of MN's in spinal cord |
ALS
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LMN only
Floppy baby, decreased fetal movement Alert but weak babies Respiratory failure, dysphagia, areflexia Live until age 2 |
Werdnig-Hoffman syndrome
Spinal Muscular Atrophy type I |
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Synucleinopathies
(2) |
Parkinson's disease
Lewy Body Disease Multiple System Atrophy |
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Parkinsonism
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Bradykinesia + Rigidity + Resting Tremor + Postural Instability
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Bradykinesia + Rigidity + Resting Tremor + Postural Instability
Dementia Synuclein Lewy Bodies |
Parkinson's
Degradation of SNc DA producing neurons |
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Bradykinesia + Rigidity
Autonomic dysfunction Ataxia Babinski sign and hyperreflexia Stridor, gasps, early falls Rapidly progressive (faster than PD) and nonresponsive to L-DOPA Synuclein inclusins + Ubiquitin |
Multiple system Atrophy (MSA)
Degradation of different parts of the brain MSA-P = mainly parkinsonian MSA-C = mainly cerebellar Shy-Drager = mainly autonomic |
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Tauopathies
(3) |
Progressive supranuclear palsy
Corticobasal degradation Post-encephalitic parkinsonism |
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Axial rigidity
Progressive supranuclear gaze palsy Postural instability Psychiatric changes Neurofibrillary tangles (Tau +) Discoloration of SN and LC From tropical fruits and teas |
Progressive supranuclear palsy
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Age 60 +
Early: asymmetric clumsiness, stiffness, clonus Middle: rigidity, alien limb, lower limb apraxia, cortical sensory loss Late: cognitive dysfunction and behavioral deficits Swollen "balloon" neurons w/ Tau |
Corticobasal degradation
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Follows encephilitis lethargica
Cortical atrophy, reduced pigment in SN (more than PD) Neurofibrillary tangles (Tau +) |
Post-encephalitic Parkinsonism
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Liver disease
Exrapyramidal movement disorders Dementia Kayser-Fleisher ring in eye Copper accumulation in tissues |
Wilson's disease
Autosomal recessive |
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Chorea, hypokinesia, tics, myoclonus, dementia, cachexia
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Huntington's disease
Loss of spiny neurons in the putamen and gliosis CAG repeat |
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LMN only
Weakness of face, bulbar muscles Onset post-adolescence Subtle sensory loss Androgen receptor gene mutation |
Kennedy's disease
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Onset before age 10
Sensory and cerebellar ataxia Areflexia, weakness Babinski sign Flexor spasm, high arched feet, retraction at MRP joints Cardiomyopathy Frataxin protein aggregates |
Friedrich's ataxia
Autosomal recessive: GAA repeat |
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