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Dhananjaya, M
- Fascioscapulohumeral Muscular Dystrophy- A Case Report
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Authors
Affiliations
1 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
1 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
Source
International Journal of Contemporary Medicine, Vol 1, No 2 (2013), Pagination: 15-17Abstract
Fascioscapulohumeral dystrophy (FSHD) is the third most common form of muscular dystrophy. It should be considered in patients with complaints of progressive weakness. We present the case of a man with facial, arms and leg weakness. Clinically diagnosed as FSHD. Electro diagnostic testing revealed findings consistent with a myopathic disorder. Subsequent genetic testing identified a FSHD allele size consistent with a FSHD deletion mutation, thus confirming the diagnosis of FSHD. Unfortunately, no effective treatments currently exist for FSHD. However, supportive measures involving physical therapy and the use of orthotics may aid in improving function and mobility.Keywords
Fascioscapulohumeral, Muscular Dystrophy, Electro Diagnostic Testing.References
- Landoyzy L, Dejerine J. Contribution à l’étude de la myopathie atrophique progressive (myopathie atrophique progressive, à type scapulo-huméral). Comptes rendus de la Société debiologie 1886; 38:478–81.
- Kilmer DD, Abresch RT, McCrory MA, Carter GT, Fowler WM Jr, Johnson ER et al. Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil 1995;74:131–39.
- Chung CS, Morton NE. Discrimination of genetic entities in muscular dystrophy. Am J Hum Genet 1959;11:339–59.
- Padberg GW, Lunt PW, Koch M, Fardeau M. Facioscapulohumeral muscular dystrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. The Netherlands: European Neuromuscular Center,1997:9–15.
- Hewitt JE, Lyle R, Clark LN, Valleley EM, Wright TJ, Wijmenga C et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet. 1994;3:1287–1295.
- N S T Thomas, K Wiseman, G Spurlock, M MacDonald, D Üstek, and M Upadhyaya. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA defined 4qter subtelomere. J Med Genet. 2007 March; 44(3): 215–218.
- Podnar S, Zidar J. Sensitivity of motor unit potential analysis in facioscapulohumeral muscular dystrophy. Muscle Nerve 2006;34: 451–456.
- Kissel JT, McDermott MP, Mendell JR, King WM, Pandya S, Griggs RC, Tawil R. Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy. Neurology. 2001; 57:1434–40.
- Paget-schroetter Syndrome- A Case Report
Abstract Views :304 |
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Authors
UG Rajoor
1,
M Dhananjaya
2
Affiliations
1 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
2 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
1 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
2 Department of Medicine, SDM College of Medical Sciences and Hospital, Sattur, Dharwad, Karnataka, IN
Source
International Journal of Contemporary Medicine, Vol 1, No 2 (2013), Pagination: 59-61Abstract
A rare case of primary upper-extremity deep vein thrombosis or Paget-Schroetter syndrome is reported. It is effort thrombosis usually affecting young healthy individuals and is a rare condition. Our patient was a middle aged male daily laborer with history of exertion using the right upper limb. He responded to limb elevation and anticoagulation. No other cause for thrombosis was found.Keywords
Upper Extremity Deep Vein Thrombosis, Paget-Schroetter, Effort Thrombosis.References
- Joffe HV, Goldhaber SZ. Upper-Extremity Deep Vein Thrombosis. Circulation 2002; 106: 1874-80.
- McGlinchey PG, Shamsuddin SA, Kidney JC. Effort-induced thrombosis of the subclavian vein – A case of Paget-Schroetter syndrome. The Ulster Medical Journal2004;73:45-6.
- Swinton NW, Edgett JW, Hall RJ. Primary Subclavian – Axillary Vein Thrombosis. Circulation 1968;38:737-45.
- Gaffar M. Upper extremity Deep Vein Thrombosis. Hospital Physician 2005;29-34.
- Hurley WL, Comins SA, Green RM, Canizzaro J. Atraumatic Subclavian Vein Thrombosis in a collegiate baseball player: A case report. Journal of Athletic Training2006;41:198-200.
- Gursel L Oktar, Emin G Ergul. Case report of Paget Schroetter syndrome. Hong Kong Med J2007; 13:243-5.