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17 Cards in this Set
- Front
- Back
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Spinal muscular atrophy |
Autosomal ress- SMN1 Degen. Of ant. Horn cells= degen of muscles the supply. Type 1 ( werdnig hoffman)= in utero, never sit, die in 1st yr Type 2 (intermediate spinal musc. Atrophy) = from 6-12mnts, cant stand, die after4 yrs. Tupe 3 (kugelberg welander)= from 2nd year, into adulthood Pan-fasicular atophy- lots of atrophic fibres in a fasicle. |
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Duchene musc dystrophy + becker musc dystophy |
X linked No/ little dystrophin- keeps ECM sturdy Witun 1st 5 yrs= hard rising (gower manoeuver), calf hypertrophy. Diff fiber sizes, incr endomysial conn. Tiss, degen/ necrosis of muscle fibers, large rounded fibres |
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Limb girdle musc dyst |
Diff walk, run, climbing steps. Autosomal dom (type 1) /ress (type2) Hypertrophic, lobulated fibre, internal nuclei, |
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Facioscapulohumeral musc dyst |
Auto dom on ch 4g35 Facial weakness, scapula winging. Incr conn tis + fat + inflam cell clusters |
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Myotonic dystrophy |
Persisting contraction Auto dom, DM1 (ch19) + DM2 (ch3) Incr internal nuclei. Decr type 1 aerobic fibres Incr type 2 anaerobic fibres |
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Congenital myopathy |
Eg. Nemaline myopathy Flobby babies, joint contractures. Rod shaped, purple inclusions in cytoplasm. |
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Glycogen storage dis (metabolic) |
Auto ress Type 8- adults |
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Mitochondrial myopathies (metabolic) |
Mito DNA mutations Muscle weakness, ptosis, v tired at exercise. Red ragged myofibrils, incr mito |
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Myasthenia gravis |
Autoimm. Ab's to Ach receptors =less contraction. Incr females Weak , tired muscles. Eye muscle weakness. More weak with use. Hyperactive reflexes Type 2 fibre atrophy (aerobic) |
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Lambert eaton syndrome |
Autonomic dysfunction Ab's to Ca channels= decr Ca + decr Ach = weak, tired muscles Decr reflex Assoc with lung tumours |
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Dermatomyositis ( inflammatory ) |
Skin rash+ muscle weakness( symm, 1st proximal, getting up + stairs) Scaly erythema over knuckles, elbows , knees (grotton lesions) + purple heliotrope colour of eyelids+ periorbital oedema. Dysphagia Inr CK Act of complement = capillary loss= perifascicular atrophy. |
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Polymyositis (inflammatory) |
No skin rash T cells release substances = muscle fibre necrosis |
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Inclusion baody myositis (inflam) |
Asymm weakness of proximal + distal muscles. Esp quads Male 50s Protein deposition Rimmed vacuoles |
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Rhabdomyolysis (toxic) |
Alcohol, opiates, statins, iv steriods, snake venome, hypokalaemia. = toxic to muscle via immune reac + causing hypokalaemia. =muscle fibre necrosis Muscle pain proximal Incr CK |
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Mitochondrial myopathy (toxic) |
AZT= swollen mito= damage= decr ATP Cyclosporin= inh mito resp |
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Periodic paralysis syn. ( ion channel) |
Weakness/ paralysis episodes After rest after exercise Auto dom Hypokalaemia= more severe and longer -Ca channel Hyperkalaemia= mins/ hrs - Na channel |
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Malignant hyperthermia (ion channel) |
Auto dom Halothane/ succinylcholine=incr Ca= incr temp, rigid muscles, incr HR +RR + cyanosis Incr CK +potassium Acidosis, renal failure , muscle necrosis |
