Neuromuscular Pathology
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| show | (1)Pure motor involvement (weakness) (2)Proximal weakness (3)Absence of autonomic dysfunction (4)Muscle atrophy (5)Pseudohypertrophy (6)Myotonia (7)Contractures
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| Features of neuropathy | show 🗑
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| Gene mutated in Duchenne's and Becker muscular dystrophy | show 🗑
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| What is the inheritance pattern of Duchenne's and Becker muscular dystrophy? | show 🗑
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| show | Duchenne's muscular dystrophy
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| Myopathy associated with mutation of sarcoglycans | show 🗑
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| show | Congential muscular dystrophy
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| Components of dystrophin complex | show 🗑
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| show | Myotonic dystrophy
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| show | Autosomal dominant
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| Genetic abnormality causing myotonic dystrophy | show 🗑
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| An inflammatory myopathy with skin manifestations | show 🗑
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| show | Immune complexes deposit in capillaries of muscle and skin.These damaged capillaries cause ischemic damage, especially at periphery.
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| A chronic inflammatory myopathy characterized by proximal muscle weakness and a higher incidence in females. This condition is responsive to steroid treatment. | show 🗑
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| show | Inclusion body myositis
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| show | Phosphorylase
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| show | Recessive inheritance
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| show | (1)Onset age <15 (2)male predominance (3)exercise intolerance (especially brief and intense (4)muscle cramping (5)muscle swelling
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| Enzyme deficient in Pompe's disease | show 🗑
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| show | Recessive inheritance
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| What are the 3 types of Pompe's disease | show 🗑
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| What variant of Pompe's disease with involvement of liver and heart, causing cardiomegaly and congestive heart failure. Death usually occur by 1 year of age. | show 🗑
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| show | Childhood onset Pompe's disease
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| show | Lipid storage myopathies
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| Myopathy present in young adulthood with opthalmoplegia plus pigmentary degeneration of the retina | show 🗑
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| (T or F)Mutations in only mitochondrial genes cause mitochondrial myopathy. | show 🗑
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| Inheritance pattern of mitochondrial myopathies | show 🗑
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| show | Myasthenia gravis
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| An autoimmune disease with anti-presynaptic calcium channel antibodies. The autoantibodies are usually a paraneoplastic syndrome. | show 🗑
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| Symptoms of peripheral neuropathies | show 🗑
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| show | (1)muscle atrophy (2)lower motor neuron signs (3)loss of tendon reflexes
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| show | Peripheral nerve reaction to injury characterized by acute degeneration of an axon and its myelin sheath distal to the site of injury.
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| show | Evidence of peripheral nerve axonal damage characterized by several adjacent sprouting axons myelinated by a single Schwann cell, different than normal 1:1 relationship of Schwann cell to axon.
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| show | True.
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| show | Response of Schwann cells to any chronic demyelinating process, with repeated rounds of demyelination/remyelination.
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| Treatment for Guillain-Barre Syndrome | show 🗑
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| An acute onset neuropathy that may precede with Campylobacter jejuni infection and may result in respiratory failure. | show 🗑
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| Histologic features of chronic inflammatory demyelinating polyneuropathy | show 🗑
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| What is the morphologic features of diabetic neuropathy | show 🗑
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| show | Diatal, sensory polyneuropathy in a glove and stocking pattern
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| What type of neuromuscular is characterized by decreased nerve conduction velocities and large compound muscle action potentials on nerve conduction studies? | show 🗑
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| show | Inflammatory myopathy
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| show | Churg-Strauss Vasculitis
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| show | Forms gap junctions between cells of PNS myelin
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| show | Charcot-Marie Tooth Neuropathy
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| show | X-linked dominant inheritance
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| What neuropathy is caused by gene duplication of PMP-22? | show 🗑
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| show | Hereditary Neuropathy with Pressure Palsies
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| Hereditary neuropathy characterized by nerve paresis following compression or mild trauma. | show 🗑
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| What is the inheritance pattern of Hereditary Neuropathy with Pressure Palsies? | show 🗑
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