NURA 815 special topics assignment- muscular dyst.

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Muscular dystrophy is a group of inherited diseases associated with abnormalities of the muscle membrane These 7 diseases are characterized by progressive loss of skeletal muscle function No evidence of denervation, sensation and reflexes are intact Primarily affect voluntary muscles (with the exception cardiac and respiratory) References: Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447.

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Sex-linked recessive disorder that mostly affects males, females can be carriers but are generally unaffected Presents in early childhood between 3 and 5 years of age References: Karlet MC & Cahoon TM. Musculoskeletal System Anatomy Physiology, Pathophysiology, and Anesthesia Management. In: Nagelhout JJ, Plaus KL, eds. Nurse Anesthesia 5ed. St. Louis, MO: Elsevier 2014: 817-834. Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Duchenne Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/duchenne-muscular-dystrophy Frasca D & Baker KR. (2014) Musculoskeletal Diseases: Muscular Dystrophy., In Apex Anesthesia Review. Retrieved from https://www.apexanesthesia.com/wp-content/uploads/grassblade/1817-musculoskeletal-diseases/res/

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Children usually present as clumsy and waddling gait with frequent falls, these boys are usually wheel chair bound by the age of 12 Necrosis leads to elevated serum creative kinase levels (20-100x normal) 30% of deaths are due to respiratory causes References: Karlet MC & Cahoon TM. Musculoskeletal System Anatomy Physiology, Pathophysiology, and Anesthesia Management. In: Nagelhout JJ, Plaus KL, eds. Nurse Anesthesia 5ed. St. Louis, MO: Elsevier 2014: 817-834. Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Frasca D & Baker KR. (2014) Musculoskeletal Diseases: Muscular Dystrophy., In Apex Anesthesia Review. Retrieved from https://www.apexanesthesia.com/wp-content/uploads/grassblade/1817-musculoskeletal-diseases/res/

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Later onset of muscle changes is characteristics, with a more slowly progressive clinical disease compared to DMD The severity of the disease correlates with the degree of the dystrophin deficiency References: Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Becker Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/becker-muscular-dystrophy Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447.

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References: Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Emery-Dreifuss Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/emery-dreifuss-muscular-dystrophy Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447.

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References: Alvarez AL, Fernandez AR. 2015. Anaesthesia recommendations for patients suffering from limb-girdle muscular dystrophy. Orphan Anesthesia. Retrieved from https://www.orpha.net/data/patho/Pro/en/Limb-girdle_muscular_dystrophy_EN.pdf Limb-Girdle Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/limb-girdle-muscular-dystrophy Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447.

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References: Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447. Oculopharygeal Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/oculopharyngeal-muscular-dystrophy

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References: Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Facioscapulohumeral Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/facioscapulohumeral-muscular-dystrophy Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447.

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References: Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Frasca D & Baker KR. (2014) Musculoskeletal Diseases: Muscular Dystrophy., In Apex Anesthesia Review. Retrieved from https://www.apexanesthesia.com/wp-content/uploads/grassblade/1817-musculoskeletal-diseases/res/ Karlet, MC & Cahoon, TM. Musculoskeletal System Anatomy Physiology, Pathophysiology, and Anesthesia Management. In: Nagelhout JJ, Plaus KL, eds. Nurse Anesthesia 5ed. St. Louis, MO: Elsevier 2014: 829. Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447.

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Careful placement of TOF monitoring– ex supercilli muscle and OPMD Of FPD

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Despite increased risk for “MH like event” in pts. with DMD, MH and DMD are genetically distinct diseases. – these pts. DO NOT Have an increased risk of MH. When possible local or regional anesthesia should be considered. Why there is a black box warning on succinylcholine  RO sudden cardiac death 2/2 hyperkalemia in children with undiagnosed skeletal muscle myopathy (most commonly duchennes) References: Bang SU, Kim YS, Kwon WJ, Lee SM, Kim SH. 2016. Peripheral Nerve Blocks as Sole Anesthetic Technique in a Patient with Severe Duchenne Muscular Dystrophy. J Anesth, 30(2):320-3. doi: 10.1007/s00540-015-2127-4. Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Frasca D & Baker KR. (2014). Musculoskeletal Diseases: Muscular Dystrophy., In Apex Anesthesia Review. Retrieved from https://www.apexanesthesia.com/wp-content/uploads/grassblade/1817-musculoskeletal-diseases/res/ Karlet, MC & Cahoon, TM. Musculoskeletal System Anatomy Physiology, Pathophysiology, and Anesthesia Management. In: Nagelhout JJ, Plaus KL, eds. Nurse Anesthesia 5ed. St. Louis, MO: Elsevier 2014: 829. Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447. Rohde D, Schmitt HJ, Winterpacht A, Muster T. 2014. Duchenne Muscular Dystrophy and Maligant Hyperthermia: A Genetic Study for the Ryanodine Receptor in 47 Patients. Eur J Anaesthesiol, 31(6):341-2. doi: 10.1097/EJA.0000000000000053.

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References: Bamaga AK, Riazi S, Amburgey K, Ong S, Halliday W, Diamandis P, Guerguerian AM, Dowling JJ, Yoon G. 2016. Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscul Disord, 26(3):201-6. doi: 10.1016/j.nmd.2016.02.007. Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447. Rohde D, Schmitt HJ, Winterpacht A, Muster T. 2014. Duchenne Muscular Dystrophy and Maligant Hyperthermia: A Genetic Study for the Ryanodine Receptor in 47 Patients. Eur J Anaesthesiol, 31(6):341-2. doi: 10.1097/EJA.0000000000000053.

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References: Bang SU, Kim YS, Kwon WJ, Lee SM, Kim SH. 2016. Peripheral Nerve Blocks as Sole Anesthetic Technique in a Patient with Severe Duchenne Muscular Dystrophy. J Anesth, 30(2):320-3. doi: 10.1007/s00540-015-2127-4. Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Frasca D & Baker KR. (2014). Musculoskeletal Diseases: Muscular Dystrophy., In Apex Anesthesia Review. Retrieved from https://www.apexanesthesia.com/wp-content/uploads/grassblade/1817-musculoskeletal-diseases/res/ Karlet, MC & Cahoon, TM. Musculoskeletal System Anatomy Physiology, Pathophysiology, and Anesthesia Management. In: Nagelhout JJ, Plaus KL, eds. Nurse Anesthesia 5ed. St. Louis, MO: Elsevier 2014: 829. Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447. Rohde D, Schmitt HJ, Winterpacht A, Muster T. 2014. Duchenne Muscular Dystrophy and Maligant Hyperthermia: A Genetic Study for the Ryanodine Receptor in 47 Patients. Eur J Anaesthesiol, 31(6):341-2. doi: 10.1097/EJA.0000000000000053.

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Muscular Dystrophy Lauren Hull

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Introduction: Content to be covered: Over view of 7 types of Muscular Dystrophy Pathophysiology Clinical Manifestations Anesthesia Considerations: Special consideration  “MH like events”

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Muscular dystrophy A Group of hereditary diseases associated with abnormalities of the muscle membrane and are characterized by a progressive painless degeneration, atrophy, and loss of skeletal muscle function. 7 Types: Duchenne (A) Becker (A) Emery-Dreifuss (B) Limb-girdle (C) Facioscapulohumeral (D) Oculopharyngeal (F) Congenital muscular dystrophy (E) Distribution of predominant muscle weakness:

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Duchenne Muscular Dystrophy (DMD) Most common & Severe form of dystrophy X-linked Recessive disease- mostly affecting males Cause: Absence of dystrophin protein. Pathophysiology: Dystrophin is a critical structural component of the cytoskeleton of skeletal and cardiac muscle cells. Anchors actin and myosin to the cell membrane Destabilizes sarcolemma during muscle contraction  increases membrane permeability Creatinine phosphokinase (marker of SKM breakdown) and myoglobin to enter systemic circulation Ca2+ freely enters the cell  activation of proteases  destruction of contractile elements  inflammation, fibrosis and cell death. Extrajunctional receptors generate on NMJ hyperkalemia following succinylcholine.

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DMD Cont. Clinical Manifestations: More common in males presents between 3 & 5 yo Atrophy and steady deterioration of proximal muscle groups of the pelvis & shoulders. Pseudohypertrophy of muscles Respiratory: Restrictive ventilatory impairment Increased secretions  recurrent pneumonia Sleep apnea Cardiac: Myocardial involvement in almost all pts. with progressive disease Degeneration of cardiac muscle  reduced contractility, papillary muscle dysfunction mitral regurgitation and cardiomyopathy Gold standard of cardiac eval = Echo EKG Changes: Impaired cardiac conduction  sinus tach w/ short PR interval Deep Qs in precordial leads

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DMD Cont. Clinical Manifestations Cont: Gastrointestinal: Gastric hypomotility & decreased laryngeal reflexes  increased risk of aspiration Other: Kyphoscoloisis & contractures  often require surgery Mental retardation occurs in 30% Gower’s sign: classic finding in which pts. use their hands to climb up their legs to arise from the floor Labs: elevated creatinine kinase (20-100x normal) Rarely live past 30 yo Treatment: No cure but corticosteroid therapy improves muscle strength, reduces the risk of scoliosis, & may slow disease progression Spine rodding and fusion

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Becker muscular dystrophy (BMD) X-linked recessive disorder Cause: reduced amounts of dystrophin Clinical Manifestations: Onset usually in the teens or early adulthood Impaired skeletal muscle function & weakness milder than DMD Gastric hypomotility & decreased laryngeal reflexes Kyphoscoloisis Restrictive ventilatory impairment Cardiac involvement: often develop cardiomyopathy can affect female carriers Other: epilepsy, macroglossia, and color blindness Typically survive into mid to late adulthood with medical management

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Emery-Dreifuss muscular dystrophy (EMD) X-linked recessive Cause: Mutations affecting multiple structural proteins found in the nucleus Clinical Manifestations: Characterized by onset of skeletal muscle contractures that precede the onset of SKM weakness Typically - humeroperoneal distribution of contractures Presents around age 10 w/ wasting and weakness of the of upper arms and calves Severe Cardiac Involvement-- cardiomyopathy & arrhythmias leading to sudden death in up to 40% of patients Usually detectable by age 20 Conduction block – common feature Mental retardation- NOT present Respiratory function usually maintained Slow progression

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Limb-girdle muscular dystrophy (LGMD) Autosomal dystrophy that preferentially affects the proximal musculature of the trunk and limbs Cause: Several genetic defects are responsible for mutations in different muscle membrane proteins Clinical Manifestations: Onset occurs from ages 20 to 50s Shoulder girdle or hip girdle muscles may be only SKM involved Usually no mental impairment Cardiac and pulmonary complications less likely Slowly progressive and relatively benign

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Oculopharyngeal Muscular dystrophy (OPMD) Rare variant of muscular dystrophy Cause: genetic defect leading to production of extra chemical material that forms clumps in the muscle cells Clinical Manifestations: Symptom onset usually not until mid 40s Progressive dysphagia and ptosis Eventual weakness of the muscles of the face and limbs is common

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Facioscapulohumeral Dystrophy (FSHD) Autosomal dominant, Cause: Deletions in chromosomal region 4q35 Clinical Manifestations: Most symptomatic by age 20 Slow progressive wasting of facial, pectoral, and shoulder girdle muscles – aspiration risk Eventual lower limb involvement Cardiac & Respiratory involvement= very Rare Progresses very slowly Normal life expectancy

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Congenital muscular dystrophy (CMD) Group of muscular dystrophies apparent at or near birth Over 30 different types of CMD grouped by how their faulty proteins affect cells Cause: genetic defects affecting proteins necessary for muscles and sometimes eyes or brain Primarily affects voluntary muscles Results in overall muscle weakness May involve: Spinal curvature Respiratory insufficiency Intellectual disabilities Eye defects Seizures

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Anesthesia Implications For PTs with Muscular Dystrophy Preop: Chronic steroid therapy- Stress dose coverage Asses cardiac function: Echo gold standard of cardiac eval EKG Mitral valve disease may require antibiotic prophylaxis Cardiology consult Assess respiratory function: Discuss possibility of post op ventilation if resp muscles effected PFTs

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Anesthesia Implications Cont. Intraop: Increased risk of pulmonary aspiration- considered full stomach Muscle Relaxants: Succinylcholine – CONTRAINDICATED- The altered sarcolemma can lead to rhabdomyolysis, myoglobin efflux, and hyperkalemia Nondepolarizing muscle relaxants- increased sensitivity recovery can be prolonged 3-6 xs normal Careful placement of TOF monitoring: unable to monitor neuromuscular function at atrophic muscles High risk of residual blockade- fully reversal/ sugammadex Very sensitive to the respiratory depressant properties of opioids, sedatives, and GA Avoid calcium channel blockers– may enhance muscle relaxation

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Anesthesia implications cont Postop: Concerns are mainly respiratory: Potential for ventilator dependence- especially if vital capacity < 30% of predicted CPAP ready in PACU Careful administration of post op opioids – potential resp depression Monitor for rhabdomyolysis

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Anesthesia implications cont. Increased risk for “MH like events”: Rhabdomyolysis, hyperkalemia, hyperthermia, unexplained tachycardia and cardiac arrest have been reported after administration of potent inhalation anesthetics with and without succinylcholine Black box warning for succinylcholine use in pediatric patients with undiagnosed MD

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“MH like events” cont. Pathophysiology: Normal Ryanodine receptors RYR1 Absence of dystrophin destabilizes sarcolemma during muscle contraction and increases membrane permeability  creatinine kinase and myoglobin enter systemic circulation, Ca2+ enters cell and activates proteases with destroy the contractile elements  inflammation, fibrosis, cell death. Absence of dystrophin alters the type and number of post junctional nicotinic receptors on muscle cell Predisposes. to hyperkalemia following succinylcholine admin. Increase K+ raises RMP, (excitable tissues = closer to threshold potential) Treatment: Dantrolene likely not effective because it does not possess membrane stabilizing effects IV calcium increases threshold potential and helps reestablish normal difference between RMP and THP Consider a “trigger free” TIVA or regional anesthesia

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Summary 7 types of MD – affect proteins of SKM membrane Duchene = most common & severe (males only) Biggest concerns  which muscles are affected Respiratory – may need post op ventilation Careful titration of opioids and NMBD Succs contraindicated Cardiac – EKG changes, myopathy & CHF Increased risk for aspiration “MH Like Events” MD & MH are completely different genetic diseases . DO NOT Have an increased risk of MH. Rhabdomyolysis, hyperkalemia, hyperthermia, unexplained tachycardia and cardiac arrest have been reported after administration of potent inhalation anesthetics with and without succinylcholine -- BB warning When possible TIVA or Regional anesthesia should be considered Great resource for latest info on MD patients: https://www.mda.org/disease/list

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References: Alvarez AL, Fernandez AR. 2015. Anaesthesia recommendations for patients suffering from limb-girdle muscular dystrophy. Orphan Anesthesia. Retrieved from https://www.orpha.net/data/patho/Pro/en/Limb-girdle_muscular_dystrophy_EN.pdf Bamaga AK, Riazi S, Amburgey K, Ong S, Halliday W, Diamandis P, Guerguerian AM, Dowling JJ, Yoon G. 2016. Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Neuromuscul Disord, 26(3):201-6. doi: 10.1016/j.nmd.2016.02.007. Bang SU, Kim YS, Kwon WJ, Lee SM, Kim SH. 2016. Peripheral Nerve Blocks as Sole Anesthetic Technique in a Patient with Severe Duchenne Muscular Dystrophy. J Anesth, 30(2):320-3. doi: 10.1007/s00540-015-2127-4. Becker Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved fromhttps://www.mda.org/disease/becker-muscular-dystrophy Dierdorf SF, Walton JS, Stasic AF. Rare Coexisting Diseases In: Barash PG, Cullen BF, Stoelting RK, Cahalan MK, Stock MC, Ortega R, eds. Clinical Anesthesia 7th ed. Philadelphia PA: Lippincott Williams and Wilkins; 2013:612-618. Duchenne Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/duchenne-muscular-dystrophy Emery-Dreifuss Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/emery-dreifuss-muscular-dystrophy Frasca D & Baker KR. (2014) Musculoskeletal Diseases: Muscular Dystrophy., In Apex Anesthesia Review. Retrieved from https://www.apexanesthesia.com/wp-content/uploads/grassblade/1817-musculoskeletal-diseases/res/ Fascioscapulohumeral Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/facioscapulohumeral-muscular-dystrophy Karlet, MC & Cahoon, TM. Musculoskeletal System Anatomy Physiology, Pathophysiology, and Anesthesia Management. In: Nagelhout JJ, Plaus KL, eds. Nurse Anesthesia 5ed. St. Louis, MO: Elsevier 2014: 829. Limb-Girdle Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/limb-girdle-muscular-dystrophy Oculopharygeal Muscular Dystrophy. 2017. Muscular Dystrophy Association Inc. Retrieved from https://www.mda.org/disease/oculopharyngeal-muscular-dystrophy Ramani, R. Skin and Musculoskeletal Diseases in: Stoelting RK, Hines RJ, Marschall KE, eds. Stoelting’s Anesthesia and Co-existing disease 6th ed. Philadelphia PA: Sauders-Elsevier; 2012: 444-447. Rohde D, Schmitt HJ, Winterpacht A, Muster T. 2014. Duchenne Muscular Dystrophy and Maligant Hyperthermia: A Genetic Study for the Ryanodine Receptor in 47 Patients. Eur J Anaesthesiol, 31(6):341-2. doi: 10.1097/EJA.0000000000000053.

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