Myasthenia gravis with concomitant severe paraspinal muscle degeneration and mitochondrial DNA4977 deletion

Internal Medicine

Volumn 46, Issue 11, 2007, Pages 747-750

  Wakata, Nobuo ^a   Konno, Shinngo ^a   Nomoto, Nobuatsu ^a   Sugimoto, Hideki ^a   Nemoto, Hiroshi ^a   Kurihara, Teruyuki ^a   Kishi, Masahiko ^b  

^a TOHO UNIVERSITY SAKURA MEDICAL CENTER   (Japan)

^b National Hospital Organization Miyazaki Higashi Hospital   (Japan)

Author keywords

Mitochondrial DNA4977 deletion; Myasthenia gravis; Paraspinal muscle degeneration; Sensorineural deafness

Indexed keywords

CHOLINERGIC RECEPTOR ANTIBODY; CREATINE KINASE; EDROPHONIUM CHLORIDE; MITOCHONDRIAL DNA; PREDNISOLONE; PYRIDOSTIGMINE; THIAMAZOLE; UBIDECARENONE;

ADULT; ARTICLE; CASE REPORT; COMORBIDITY; COMPUTER ASSISTED TOMOGRAPHY; DIPLOPIA; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DYSARTHRIA; DYSPHAGIA; ELECTROMYOGRAPHY; FAMILY HISTORY; FEMALE; GENE DELETION; HUMAN; HYPERTHYROIDISM; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYASTHENIA GRAVIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RUNNING; SPINAL MUSCULAR ATROPHY; THYMECTOMY;

DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; HEARING LOSS, SENSORINEURAL; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR ATROPHY; MYASTHENIA GRAVIS; SPINAL CURVATURES; SYNDROME;

EID: 34250155668     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.46.6400     Document Type: Article

References (14)

1. Bai U, Seidman D. A specific mitochondrial DNA (mitDNA4977) is identified in a pedigree of a family with hearing loss. Hear Res 154: 73-80, 2001.
2. Ueda N, Oshima T, Ikeda K, Abe K, Aoki M, Takasaka T. Mitochondrial DNA deletion is a predisposing cause for sensorineural hearing loss. Laryngoscope 108: 580-584, 1998.
3. Le Forestier N, Gherardi C, Meyrignac C, Annane D, Marsac C, Gray F, Gajdos P. Myasthenic symptoms in patient with mitochondrial myopathies. Muscle Nerve 18: 1338-1340, 1995.
4. Mitsikostas D, Manta P, Kalfakis N, et al. External ophthalmoplegia with ragged-red fibers and acetylcholine receptor antibodies. Funct Neurol 10: 209-215, 1995.
5. Loebeck LJ, Dotson M, Sulaiman AR, Jaradeh SS, Mass EF, Kinder D. Myasthenia gravis associated with mitochondrial myopathy. Muscle Nerve 15: 1206-215, 1992 (abstract).
6. Plewnia K, Dotti MT, Manneschi L, et al. A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case. J Submicrosc Cytol Pathol 29: 335-338, 1997.
7. Serratrice G, Pouget J, Pellissier JF. Bent spine syndrome. J Neurol Neurosurg & Psychiatry 60: 51-54, 1996.
8. Oerlemans WGH, Visser M. Dropped head syndrome and bent spine syndrome: two separate clinical entities or different manifestations of axial myopathy? J Neurol Neurosurg Psychiatry, 65: 258-259, 1998.
9. Schabitz WR, Glatz K, Schuhan C, et al. Severe forward flexion of the trunk in Parkinson's disease: focal myopathy of the paraspinal muscles mimicking camptocormia. Mov Disord 18: 408-414, 2003.
10. Kuncl RW, Cornblath DV, Griffin JW. Assessment of thoracic paraspinal muscle in the diagnosis of ALS. Muscle Nerve 11: 484-492, 1988.
11. Umapathi T, Chaudhry V, Cornblath D, Drachman D, Griffin J, Kuncl R. Head drop and comptocormia. J Neurol Neurosurg Psychiatry 73: 1-7, 2002.
12. Lange DJ, Fetell MR, Lovelace RE, Rowland LP. The floppy head syndrome. Ann Neurol 20: 132-133, 1986.
13. Katz JS, Wolfe GI, Brums DK, Bryan WW, Felckenstein JL, Barohn RJ. Isolated neck extensor myopathy: A common cause of dropped head syndrome. Neurology 46: 917-921, 1996.
14. Hadar H, Godoth N, Heifetz M. Fatty replacement of lower paraspinal muscles: normal and neuromuscular disorders. Am J Roentgenol 141: 895-898, 1983.