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Tibial muscular dystrophy

MedGen UID:
304338
Concept ID:
C1450052
Disease or Syndrome
Synonyms: Distal Myopathy, Udd; Finnish Markesbery Muscular Dystrophy; Finnish-Markesbery Muscular Dystrophy; Muscular Dystrophies, Tibial; Muscular Dystrophy, Finnish-Markesbery; Muscular Dystrophy, Tibial; Muscular Dystrophy, Udd-Markesbery; Myopathy, Udd; Myopathy, Udd Distal; Tibial Muscular Dystrophy; Udd Distal Myopathy; Udd Markesbery Muscular Dystrophy; Udd Myopathy; Udd-Markesbery Muscular Dystrophy
SNOMED CT: Tibial muscular dystrophy (698846009); Udd distal myopathy (698846009); Udd myopathy (698846009); Udd-Markesbery muscular dystrophy (698846009)
 
OMIM®: 600334

Recent clinical studies

Etiology

Palmio J, Jokela M, Sandell S, Suominen T, Penttilä S, Udd B
Duodecim 2016;132(18):1635-44. PMID: 29188941
Evilä A, Vihola A, Sarparanta J, Raheem O, Palmio J, Sandell S, Eymard B, Illa I, Rojas-Garcia R, Hankiewicz K, Negrão L, Löppönen T, Nokelainen P, Kärppä M, Penttilä S, Screen M, Suominen T, Richard I, Hackman P, Udd B
Ann Neurol 2014 Feb;75(2):230-40. Epub 2014 Feb 24 doi: 10.1002/ana.24102. PMID: 24395473
Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV
Acta Neurol Scand 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. PMID: 15242415
Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L
Am J Hum Genet 1998 Mar;62(3):620-6. doi: 10.1086/301752. PMID: 9497249Free PMC Article
Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V
Arch Neurol 1993 Jun;50(6):604-8. PMID: 8503797

Diagnosis

Udd B
Handb Clin Neurol 2011;101:239-62. doi: 10.1016/B978-0-08-045031-5.00016-5. PMID: 21496636
Pardal-Fernández JM, Jerez-García P, Rallo-Gutiérrez B, Puentes-Gil JM, Godes-Medrano B, Marco-Giner J
Electromyogr Clin Neurophysiol 2005 Jul-Aug;45(5):285-90. PMID: 16218196
Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV
Acta Neurol Scand 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. PMID: 15242415
de Seze J, Udd B, Haravuori H, Sablonnière B, Maurage CA, Hurtevent JF, Boutry N, Stojkovic T, Schraen S, Petit H, Vermersch P
Neurology 1998 Dec;51(6):1746-8. doi: 10.1212/wnl.51.6.1746. PMID: 9855539
Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V
Arch Neurol 1993 Jun;50(6):604-8. PMID: 8503797

Prognosis

Pénisson-Besnier I, Hackman P, Suominen T, Sarparanta J, Huovinen S, Richard-Crémieux I, Udd B
J Neurol Neurosurg Psychiatry 2010 Nov;81(11):1200-2. Epub 2010 Jun 22 doi: 10.1136/jnnp.2009.178434. PMID: 20571043
Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B
J Neurol 2010 Apr;257(4):575-9. Epub 2009 Nov 13 doi: 10.1007/s00415-009-5372-3. PMID: 19911250
Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV
Acta Neurol Scand 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. PMID: 15242415

Clinical prediction guides

Bachinski LL, Baggerly KA, Neubauer VL, Nixon TJ, Raheem O, Sirito M, Unruh AK, Zhang J, Nagarajan L, Timchenko LT, Bassez G, Eymard B, Gamez J, Ashizawa T, Mendell JR, Udd B, Krahe R
Neuromuscul Disord 2014 Mar;24(3):227-40. Epub 2013 Nov 15 doi: 10.1016/j.nmd.2013.11.001. PMID: 24332166Free PMC Article
Pollazzon M, Suominen T, Penttilä S, Malandrini A, Carluccio MA, Mondelli M, Marozza A, Federico A, Renieri A, Hackman P, Dotti MT, Udd B
J Neurol 2010 Apr;257(4):575-9. Epub 2009 Nov 13 doi: 10.1007/s00415-009-5372-3. PMID: 19911250
Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L
Am J Hum Genet 1998 Mar;62(3):620-6. doi: 10.1086/301752. PMID: 9497249Free PMC Article

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