Hypothyroidism unmasking proximal myotonic myopathy

Neuromuscular Disorders

Volumn 10, Issue 3, 2000, Pages 165-172

  Sansone, V ^a,c   Griggs, R C ^b   Moxley III, R T ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b Department of Neurology ^*  (United States)

^c UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

Author keywords

Hypothyroid myopathy; Myotonic dystrophy; Proximal myotonic myopathy

Indexed keywords

LEVOTHYROXINE SODIUM;

ADULT; AGED; ARTICLE; CASE REPORT; CATARACT; ELECTROMYOGRAM; FAMILIAL DISEASE; HUMAN; HYPOTHYROIDISM; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; MYOTONIA; MYOTONIC DYSTROPHY; PRIORITY JOURNAL;

ADULT; AGED; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; HYPOTHYROIDISM; MALE; MYOTONIC DISORDERS; PEDIGREE;

EID: 0034163752     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00097-8     Document Type: Article

References (66)

1. Harper PS. 2nd ed. Myotonic dystrophy. In: Major problems in neurology, vol. 21. London: WB Saunders Co, 1989.
2. Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
3. Thornton CA, Griggs RC, Moxley RT. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
4. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
5. Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
6. Meola G, Sansone V, Radice S, Skradski S, Ptacek L. A family with an unusual myotonic and myopathie phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromusc Disord 1996;6:143-150.
7. Moxley III RT. Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromusc Disord 1996;6:87-93.
8. Moxley III RT, Udd B, Ricker K. 54th ENMC International Workshop: PROMM (Proximal myotonic myopathies) and other proximal myotonic syndromes. Neuromusc Disord 1998;8:508-518.
9. Meola G, Sansone V. A newly-described myotonic disorder (proximal myotonic myopathy - PROMM): personal experience and review of the literature. Ital J Neurol Sci 1996;17:347-353.
10. Medical Research Council. Aids to the Examination of the Peripheral Nervous system. Memorandum 45, London: Pendragon House, 1976.
11. Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H. Proximal myotonic dystrophy - a family with autosomal dominant muscular dystrophy, cataracts, hearing loss, and hypogonadism - heterogeneity of proximal myotonic disorders. Neuromusc Disord 1997;7:217-228.
12. Ricker K, Grimm T, Koch MC, et al. Linkage of proximal myotonic myopathy to chromosome 3q. Neurology 1999;52:170-171.
13. Ranum LPW, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998;19:196-198.
14. Newman B, Meola G, O'Donovan DG, Schapira AHV, Kingston H. Proximal myotonic myopathy (PROMM) presenting as myotonia during pregnancy. Neuromusc Disord 1999;9:144-149.
15. Wagner S, Daymeer F, Kurz LL, et al. The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology. Muscle Nerve 1998;21:1122-1128.
16. Barchi RL. Phenotype and genotype in myotonic disorders. Muscle Nerve 1998;21:1119-1121.
17. Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
18. Ptacek LJ, George AL, Griggs RC, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-1027.
19. Ptacek LJ, Tawil R, Griggs RC, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 1994;44:1500-1503.
20. Lehmann-Horn F, Engel AG, Ricker K, Rudel R. In: Engel AG, Franzini-Armstrong C, editors. The periodic paralysis and paramyotonia congenita, Myology, vol. 2, 2nd ed. 1994. pp. 1303-1334.
21. Annon SC. From mutation to myotonia in sodium channel disorders. Neuromusc Disord 1997;7:241-249.
22. Kissel JT, Mendell JR. The endocrine myopathies. In: Vinken PJ, Bruyn GW, Klawans HL, Rowland LP, DiMauro S, editors. Handbook of clinical neurology, Vol. 62, Amsterdam: Elsevier, 1992. pp. 527-551.
23. Griggs RC, Mendell JR, Miller RG. Evaluation and treatment of myopathies, Ch 10355, Philadelphia: FA Davis Company, 1995. pp. 355-359.
24. Dubowitz V. Hypothyroidism in muscle disorders in childhood, 2nd ed. London: WB Saunders, 1978.
25. Utiger R. In: Wilson JD, Foster DW, editors. Hypothyroidism: Williams textbook of endocrinology, 8th ed. London: WB Saunders Harcourt Brace Jovanovich, 1992. pp. 45.
26. Goldstone H, Ford F. Severe myotonia as a complication of postoperative thyroid deficiency. Bull John Hopkins Hosp 1955;97:357-366.
27. Wilson J, Wallon JN. Some muscular manifestations of hypothyroidism. J Neurol Neurosurg Psychiat 1959;22:320-324.
28. Astrom K, Kugelberg E, Muller R. Hypothyroid myopathy. Arch Neurol 1961;5:26-36.
29. Nickel SN, Frame B, Bebin J, et al. Mixedema neuropathy and myopathy. Neurology 1961;11:125-137.
30. Norris FH, Panner BJ. Hypothyroid myopathy. Clinical, electromyographical and ultrastructural observations. Arch Neurol 1966;14:574-589.
31. Fessel WJ. Myopathy of hypothyroidism. Ann Rheum 1968;27:590-596.
32. Golding DN. Hypothyroidism presenting with musculoskeletal symptoms. Ann Rheum Disord 1970;29:10-14.
33. Takamori M, Gutmann L, Shane SR. Contractile properties of human skeletal muscle. Normal and thyroid disease. Arch Neurol 1971;25:535-546.
34. Ossermann KE, Tsairis P, Weiner LB. Myasthenia gravis and thyroid disease: clinical and immunological correlation. Mt Sinai J Med NY 1967;34:469-483.
35. Simpson JA. The correlation's between myasthenia gravis and disorders of the thyroid gland in research in muscular dystrophy, Members of the research committee of the muscular dystrophy group, editors. London: Pitman Medical Publishing Company, 1968. pp. 31-41.
36. Scarpazelos S, Lygidakis C, Papageorgiou C, et al. Neural and muscular manifestations of hypothyroidism. Arch Neurol 1973;29:140-144.
37. Wiles CM, Young A, Jones DA, Edwards HT. Muscle relaxation rate, fiber-type composition and energy turnover in hyper- and hypo-thyroid patients. Clin Sci 1979;57:375-384.
38. Mckeran RO, Slavin G, Ward P, Paul E, Mair WGP. Hypothyroid myopathy. A clinical and pathological study. J Pathol 1980;132:35-54.
39. Rao SN, Kaiyar BC, Nair KRP. Neuromuscular status in hypothyroidism. Acta Neurol Scand 1980;61:167-177.
40. Klein I, Parker M, Shebert R, Ayyar DR, Levey GS. Hypothyrodism presenting as muscle stiffness and pseudohypertrophy: Huffman's syndrome. Am J Med 1894;70:89.
41. Khaleeli AA, Griffith DG, Edwards RHT. The clinical presentation of hypothyroid myopathy and its relationship to abnormalities in structure and function of skeletal muscle. Clin Endocrinol 1983;19:365-376.
42. Ono S, Inouye K, Mannen T. Myopathology of hypothyroid myopathy. J Neurol Sci 1987;77:237-248.
43. Ho KL. Basophilic bodies of skeletal muscle in hypothyroidism. Enzyme histochemical and ultrastructural studies. Hum Pathol 1989;20:1119-1124.
44. Evans RM, Watanabe I, Singer PA. Central changes in hypothyroid myopathy: a case report. Muscle Nerve 1990;13:952-956.
45. Wise MP, Blunt S, Lane RJM. Neurological presentations of hypothyroidism: the importance of slow relaxing reflexes. J Roy Soc Med 1995;88:272-274.
46. Larsen PR, Ingbar SH. Thyroid hormone deficiency. Hypothyroidism: Williams textbook of endocrinology, 8th ed. London: WB Saunders Harcourt Brace Jovanovich , 1992. pp. 445-487.
47. Engel A, Banker BQ. 2nd ed. Endocrine myopathies In: Myology, vol 2. New York: McGraw Hill, 1999. pp. 1739-1741.
48. Swanson JW, McConahey J Kelly. Neurologic aspects of thyroid dysfunction. Mayo Clin Proc 1981;56:504-512.
49. Orrell R, Lane RJM. Hypothyroid myopathy. In: Lane RJM, editor. Handbook of muscle disease, New York: Marcel Dekker, Inc, 1996. pp. 366-378.
50. Ramsay I. Thyroid disease and muscle dysfunction. Year Book Medical, 1974.
51. Docherty I, Harrop JS, Hine KR, Hopton MR, Matthews HL, Taylor CJ. Myoglobin concentration, creatine kinase activity, and creatine kinase B subunit concentrations in serum during thyroid disease. Clin Chem 1984;30:42-45.
52. Wade AF. A case of myotonia congenita with hypothyroidism. Br Med J 1957;1:1223-1224.
53. Jarcho LW, Tyler F. Myxedema, pseudomyotonia, and myotonia congenita. Arch Int Med 1958;102:357-366.
54. Humphrey JG, Richardson JC. Myotonia associated with hypothyroidism. Can Med Assoc J 1962;87:1084.
55. Venables GS, Bates D, Shaw DA. Hypothyroidism with true myotonia. J Neurol Neurosurg Psychiatry 1978;41:1013-1015.
56. Klosterman W, Wessel K, Moser A. Unmasking of true myotonia by hypothyroidism (in German: Desmaskierung einer kongnetialen myotonic durch eine hypothyreose). Nervenarzt 1993;64:266-268.
57. McDaniel HG, Pittman CS, Oh SJ, Di Mauro S. Carbohydrate metabolism in hypothyroid myopathy. Metabolism 1977;26:867-873.
58. Hierholzer K, Finke R. Myxedema. Kidney International 1997;51:S82-S89.
59. +ATPase: mechanisms underlying rapid and sustained changes in pump activity. Am J Physiol 1995;269:C295-C311.
60. + exchange by insulin in the human forearm. Am J Physiol 1988;255:E953-E959.
61. Argov Z, Renshaw PF, Boden B, Winokur A, Bank WJ. Effects of thyroid hormones on skeletal muscle bioenergetics. In vivo phosphorus-31 magnetic resonance spectroscopy study of humans and rats. J Clin Invest 1988;81:1695-1701.
62. Hurwitz LJ, Allen IV, McCorrmick D. Reduced muscle alfa-glucosidase (acid-maltase activity in hypothyroid myopathy. Lancet 1970;1:67-69.
63. Dubaniewicz D, Kaciuba-Uscilko H, Nazar K, et al. Sensitivity of the soleus muscle to insulin in resting and exercising rats with experimental hypo- and hyper-thyroidism. Biochem J 1989;263:243-247.
64. Everts ME. Effects of thyroid hormones on contractility and cation transport in skeletal muscle. Acta Physiol Scand 1996;156:325-333.
65. Taylor DJ, Rajagopalan B, Radda GK. Cellular energetics in hypothyroid muscle. Eur J Clin Invest 1992;22:358-365.
66. Moxley III RT, Sansone V, Lifton A, Thornton CA. Insulin resistance in proximal myotonic myopathy (PROMM). Neurology 1997;48:A229.