Myopathies of systemic disease
- David Lacomis, MD
David Lacomis, MD
- Professor of Neurology and Pathology
- University of Pittsburgh School of Medicine
Skeletal muscle is a complex tissue that is composed of many structural proteins and several energy-producing pathways. Thus, it can be perturbed by a number of systemic disorders.
This topic will review the myopathies associated with endocrine disease, malabsorption, electrolyte disturbance, critical illness, and rheumatic disease.
Endocrine diseases are generally associated with hormonally-mediated systemic alterations in metabolism. At any time during the course of many endocrinopathies, muscle may become affected. The diagnosis of such a myopathy may be more difficult if it is the presenting manifestation of the endocrinopathy.
Hypothyroid myopathy — Muscle disease is a common complication of congenital and adult-onset hypothyroidism. Hypothyroid myopathy is briefly reviewed here and is discussed in greater detail separately. (See "Hypothyroid myopathy".)
Patients with hypothyroidism frequently complain of weakness with or without cramps and myalgias. Patients of all ages and either sex may be affected, but hypothyroidism and therefore hypothyroid myopathy is more common in women. Weakness may be an initial symptom of hypothyroidism, or it may occur years into the course of the endocrinopathy.
- Kelly FJ, McGrath JA, Goldspink DF, Cullen MJ. A morphological/biochemical study on the actions of corticosteroids on rat skeletal muscle. Muscle Nerve 1986; 9:1.
- Smith OL, Wong CY, Gelfand RA. Influence of glucocorticoids on skeletal muscle proteolysis in normal and diabetic-adrenalectomized eviscerated rats. Metabolism 1990; 39:641.
- Almon RR, Dubois DC. Fiber-type discrimination in disuse and glucocorticoid-induced atrophy. Med Sci Sports Exerc 1990; 22:304.
- Ruff RL. Endocrine myopathies. In: Myology, Engel AG, Banker BQ. (Eds), McGraw Hill, New York 1986. p.1871.
- Beato M, Klug J. Steroid hormone receptors: an update. Hum Reprod Update 2000; 6:225.
- Mitch WE, Bailey JL, Wang X, et al. Evaluation of signals activating ubiquitin-proteasome proteolysis in a model of muscle wasting. Am J Physiol 1999; 276:C1132.
- PLOTZ CM, KNOWLTON AI, RAGAN C. The natural history of Cushing's syndrome. Am J Med 1952; 13:597.
- Urbanic RC, George JM. Cushing's disease--18 years' experience. Medicine (Baltimore) 1981; 60:14.
- Blanco C, Marazuela M, Flores J, Alvarez J. Severe respiratory failure secondary to Cushing's myopathy. J Endocrinol Invest 2001; 24:618.
- Minetto MA, Lanfranco F, Botter A, et al. Do muscle fiber conduction slowing and decreased levels of circulating muscle proteins represent sensitive markers of steroid myopathy? A pilot study in Cushing's disease. Eur J Endocrinol 2011; 164:985.
- Olafsson E, Jones HR Jr, Guay AT, Thomas CB. Myopathy of endogenous Cushing's syndrome: a review of the clinical and electromyographic features in 8 patients. Muscle Nerve 1994; 17:692.
- Lacomis D, Chad DA, Aronin N, Smith TW. The myopathy of Cushing's syndrome. Muscle Nerve 1993; 16:880.
- Pleasure DE, Walsh GO, Engel WK. Atrophy of skeletal muscle in patients with Cushing's syndrome. Arch Neurol 1970; 22:118.
- Khaleeli AA, Betteridge DJ, Edwards RH, et al. Effect of treatment of Cushing's syndrome on skeletal muscle structure and function. Clin Endocrinol (Oxf) 1983; 19:547.
- Falduto MT, Czerwinski SM, Hickson RC. Glucocorticoid-induced muscle atrophy prevention by exercise in fast-twitch fibers. J Appl Physiol (1985) 1990; 69:1058.
- Thorn, GW, Dorrance, SS, Day, E. Addison's Disease: Evaluation of synthetic desoxycorticosterone acetate therapy in 158 patients. Ann Intern Med 1942; 16:1053.
- Nerup J. Addison's disease--clinical studies. A report fo 108 cases. Acta Endocrinol (Copenh) 1974; 76:127.
- Shapiro MS, Trebich C, Shilo L, Shenkman L. Myalgias and muscle contractures as the presenting signs of Addison's disease. Postgrad Med J 1988; 64:222.
- Harbuz V, Bihan H, Salama J, et al. Flexion contractures possibly reflect the existence of hypocortisolism: two case reports. J Neurol 2010; 257:1129.
- CONN JW, KNOPF RF, NESBIT RM. CLINICAL CHARACTERISTICS OF PRIMARY ALDOSTERONISM FROM AN ANALYSIS OF 145 CASES. Am J Surg 1964; 107:159.
- RELMAN AS. DIAGNOSIS OF PRIMARY ALDOSTERONISM. Am J Surg 1964; 107:173.
- Atsumi T, Ishikawa S, Miyatake T, Yoshida M. Myopathy and primary aldosteronism: electronmicroscopic study. Neurology 1979; 29:1348.
- Zavatto A, Concistrè A, Marinelli C, et al. Hypokalemic rhabdomyolysis: a rare manifestation of primary aldosteronism. Eur Rev Med Pharmacol Sci 2015; 19:3910.
- Krishnan AV, Colebatch JG, Kiernan MC. Hypokalemic weakness in hyperaldosteronism: activity-dependent conduction block. Neurology 2005; 65:1309.
- Clinical conference: Hyperparathyroidism: recent studies. Ann Intern Med 1973; 79:566.
- Gutman, AB, Swenson, PC, Parsons, WB. The differential diagnosis of hyperparathyroidism. JAMA 1934; 103:87.
- De Luca GC, Eggers SD. A rare complication of azotemic hyperparathyroidism: ischemic calcific myopathy. Neurology 2010; 75:1942.
- Cholod EJ, Haust MD, Hudson AJ, Lewis FN. Myopathy in primary familial hyperparathyroidism. Clinical and morphologic studies. Am J Med 1970; 48:700.
- BISCHOFF A, ESSLEN E. MYOPATHY WITH PRIMARY HYPERPARATHYROIDISM. Neurology 1965; 15:64.
- Frame B, Heinze EG Jr, Block MA, Manson GA. Myopathy in primary hyperparathyroidism. Observations in three patients. Ann Intern Med 1968; 68:1022.
- Patten BM, Pages M. Severe neurological disease associated with hyperparathyroidism. Ann Neurol 1984; 15:453.
- Skaria J, Katiyar BC, Srivastava TP, Dube B. Myopathy and neuropathy associated with osteomalacia. Acta Neurol Scand 1975; 51:37.
- Byrne MF, Razak AR, Leader MB, et al. Disabling osteomalacic myopathy as the only presenting feature of coeliac disease. Eur J Gastroenterol Hepatol 2002; 14:1271.
- Kozanoglu E, Basaran S, Goncu MK. Proximal myopathy as an unusual presenting feature of celiac disease. Clin Rheumatol 2005; 24:76.
- Hadjivassiliou M, Chattopadhyay AK, Grünewald RA, et al. Myopathy associated with gluten sensitivity. Muscle Nerve 2007; 35:443.
- Berger JR. The neurological complications of bariatric surgery. Arch Neurol 2004; 61:1185.
- Koffman BM, Greenfield LJ, Ali II, Pirzada NA. Neurologic complications after surgery for obesity. Muscle Nerve 2006; 33:166.
- Osteomalacia in a 61-year-old man. Am J Med 1987; 83:509.
- Russell JA. Osteomalacic myopathy. Muscle Nerve 1994; 17:578.
- Kleopa KA, Kyriacou K, Zamba-Papanicolaou E, Kyriakides T. Reversible inflammatory and vacuolar myopathy with vitamin E deficiency in celiac disease. Muscle Nerve 2005; 31:260.
- Ukaonu C, Hill DA, Christensen F. Hypokalemic myopathy in pregnancy caused by clay ingestion. Obstet Gynecol 2003; 102:1169.
- Rice JE, Faunt JD. Excessive cola consumption as a cause of hypokalaemic myopathy. Intern Med J 2001; 31:317.
- Ishikawa S, Kato M, Tokuda T, et al. Licorice-induced hypokalemic myopathy and hypokalemic renal tubular damage in anorexia nervosa. Int J Eat Disord 1999; 26:111.
- Sharief MK, Robinson SF, Swash M. Hypokalaemic myopathy in alcoholism. Neuromuscul Disord 1997; 7:533.
- Taniguchi K, Okino I, Yamamoto N, et al. [Two cases with dropped head syndrome caused by hypokalemic myopathy]. Rinsho Shinkeigaku 2011; 51:110.
- Kojima S, Takagi A, Ida M, Shiozawa R. Muscle pathology in polymyalgia rheumatica: histochemical and immunohistochemical study. Jpn J Med 1991; 30:516.
- Banker B, Engel A. Other inflammatory myopathies. In: Myology, 3rd, Engel AG, Franzini-Armstrong C. (Eds), McGraw-Hill, New York 2004. p.1460.
- Uddhammar A, Rantapää Dahlqvist S, Hedberg B, Thornell LE. Deltoid muscle in patients with polymyalgia rheumatica. J Rheumatol 1998; 25:1344.
- Prayson RA. Skeletal muscle vasculitis exclusive of inflammatory myopathic conditions: a clinicopathologic study of 40 patients. Hum Pathol 2002; 33:989.
- Kang Y, Hong SH, Yoo HJ, et al. Muscle Involvement in Polyarteritis Nodosa: Report of Eight Cases With Characteristic Contrast Enhancement Pattern on MRI. AJR Am J Roentgenol 2016; 206:378.
- Panegyres PK, Blumbergs PC, Leong AS, Bourne AJ. Vasculitis of peripheral nerve and skeletal muscle: clinicopathological correlation and immunopathic mechanisms. J Neurol Sci 1990; 100:193.
- Savage CO, Winearls CG, Evans DJ, et al. Microscopic polyarteritis: presentation, pathology and prognosis. Q J Med 1985; 56:467.
- Nakamura H, Okada A, Kawakami A, et al. Rheumatoid vasculitis of crural muscles confirmed by muscle biopsy in the absence of inflammatory myopathy: histologic and MRI study. Rheumatol Int 2010; 30:1381.
- Lacomis D, Giuliani MJ, Wasko MC, Oddis CV. Giant cell arteritis presenting with proximal weakness and skeletal muscle vasculitis. Muscle Nerve 1999; 22:142.
- Spuler S, Emslie-Smith A, Engel AG. Amyloid myopathy: an underdiagnosed entity. Ann Neurol 1998; 43:719.
- Simmons Z, Specht CS. The neuromuscular manifestations of amyloidosis. J Clin Neuromuscul Dis 2010; 11:145.
- Muchtar E, Derudas D, Mauermann M, et al. Systemic Immunoglobulin Light Chain Amyloidosis-Associated Myopathy: Presentation, Diagnostic Pitfalls, and Outcome. Mayo Clin Proc 2016; 91:1354.
- Friedman Y, Paul JT, Turley J, et al. Axial myopathy due to primary amyloidosis. Muscle Nerve 2007; 36:542.
- Chapin JE, Kornfeld M, Harris A. Amyloid myopathy: characteristic features of a still underdiagnosed disease. Muscle Nerve 2005; 31:266.
- Gertz MA, Kyle RA. Myopathy in primary systemic amyloidosis. J Neurol Neurosurg Psychiatry 1996; 60:655.
- Hull KM, Griffith L, Kuncl RW, Wigley FM. A deceptive case of amyloid myopathy: clinical and magnetic resonance imaging features. Arthritis Rheum 2001; 44:1954.
- Rubin DI, Hermann RC. Electrophysiologic findings in amyloid myopathy. Muscle Nerve 1999; 22:355.
- Yamada M, Tsukagoshi H, Hatakeyama S. Skeletal muscle amyloid deposition in AL- (primary or myeloma-associated), AA- (secondary), and prealbumin-type amyloidosis. J Neurol Sci 1988; 85:223.
- Carr AS, Pelayo-Negro AL, Jaunmuktane Z, et al. Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Neuromuscul Disord 2015; 25:511.
- ENDOCRINE MYOPATHIES
- Hypothyroid myopathy
- Hyperthyroid myopathy
- Cushing syndrome
- Adrenal insufficiency
- Hyperaldosteronism with myopathy
- Hyperparathyroid myopathy
- Diabetic muscle infarction
- MYOPATHIES ASSOCIATED WITH MALABSORPTION
- Osteomalacic myopathy and celiac sprue
- Vitamin E deficiency
- HYPOKALEMIC MYOPATHY
- MYOPATHY ASSOCIATED WITH CRITICAL ILLNESS
- MYOPATHIES IN RHEUMATIC DISEASES
- Polymyalgia rheumatica
- Skeletal muscle vasculitis
- - Treatment
- Amyloid myopathy