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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| show | (1)Mixed motor and sensory involvement (2)distal weakness (3)may have some autonomic dysfunction
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| show | DMD gene which encodes a protein called dystrophin is mutated. Most mutations are deletions or duplications of one or more exons in the dystrophin gene, often resulting in a frameshift mutation.
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| show | X-linked inheritance. DMD gene is found on the X chromosome.
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| A myopathy that typically manifests by 5 years of age with weakness and evetually wheelchair dependence by age of 10-12. Death occurs due to respriatory insufficiency and cardiac failure by the early 20s. | show 🗑
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| show | Limb girdle dystrophies
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| Myopathy associated with mutation of merosin (laminin-2) | show 🗑
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| show | (1)Dystrophin (2)4 different sarcoglycans (3)laminin-2
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| show | Myotonic dystrophy
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| Inheritance pattern of myotonic dystrophy | show 🗑
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| show | Trinucleotide repeat expansion (CTS) in 3'UTR of myotonin kinase. (<30 repeats is normal, >50 repeats results in disease)
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| show | Dermatomyositis
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| Pathogenesis of dermatomyositis | show 🗑
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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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| A chronic inflammatory myositis with a higher incidence in males with typical distal muscle involvement. Histologic features include rimmed vacuoles and/or inclusions. This condition is not responsive to steroid treatments. | show 🗑
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| Enzyme deficient in Mcardle's disease | show 🗑
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| Inheritence pattern of Mcardle's disease | show 🗑
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| Clinical features of Mcardle's disease | show 🗑
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| show | Acid maltase deficiency
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| Inheritance pattern of Pompe's disease | show 🗑
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| What are the 3 types of Pompe's disease | show 🗑
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| show | Infantile onset Pompe's disease
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| show | Childhood onset Pompe's disease
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| show | Lipid storage myopathies
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| show | Kearns-Sayre syndrome
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| show | False. Mutations in both nuclear and miotchondrial genes cause mitochondrial myopathies.
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| show | Maternal inheritance, since the oocyte contrbiutes the mitochondria to the embryo
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| An autoimmune disease with antibodies against acetylcholine receptors. | show 🗑
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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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| Wallerian degeneration | show 🗑
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| Regnerating clusters | show 🗑
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| (T or F) Peripheral nerves can regenerate if the scaffolding of the nerve is intact. | show 🗑
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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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| show | Lymphocytic and macrophage infiltrates in early phases and onion bulbs in the end-stage of the disease
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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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| show | Neurogenic (nerve or spinal) disorder
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| What type of neuromuscular disorder is characterized by high spontaneous motor unit activity on EMG? | show 🗑
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| Neuropathy characterized by asthma and progressive weakness | show 🗑
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| Function of connexin 32 | show 🗑
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| What neuropathy is caused by a point mutation in connexin 32? | show 🗑
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| show | X-linked dominant inheritance
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| show | Charcot-Marie Tooth Neuropathy 1A
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| show | Hereditary Neuropathy with Pressure Palsies
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| show | Hereditary Neuropathy with Pressure Palsies
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| show | Autosomal dominant
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