Disease #02439

Official abbreviation RSMD
Name dystrophy, muscular, rigid spine (RSMD)
OMIM ID -
Individuals reported having this disease 126
Phenotype entries for this disease 126
Associated with 1 gene SEPN1
Associated tissues -
Disease features -
Remarks -


Individuals

126 entries on 2 pages. Showing entries 1 - 100.
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00104271 Pat1 PubMed: Okamoto 2006 first cousin parents M - Japan - >41y 0 - - RSMD delayed motor milestones, never jump or run, wheelchair bound 34y; IHC SEPN1 low, spotted aggregates; WB no SEPN1; CPK 590 SEPN1 SEPN1 2 1 Johan den Dunnen
00104272 ? PubMed: Moghadaszadeh 2001 - ? - Morocco - - 0 - - RSMD - SEPN1 SEPN1 2 3 Johan den Dunnen
00104273 ? PubMed: Moghadaszadeh 2001 - ? - Algeria - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104274 ? PubMed: Moghadaszadeh 2001 - ? - Iran - - 0 - - RSMD - SEPN1 SEPN1 2 2 Johan den Dunnen
00104275 E1 PubMed: Moghadaszadeh 2001 - ? - Iran - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104276 E13 PubMed: Moghadaszadeh 2001 - ? - Turkey - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104278 ? PubMed: Allamand 2006 - ? - France - - 0 - - RSMD WB SEPN1 normal SEPN1 SEPN1 2 1 Johan den Dunnen
00104279 ? PubMed: Moghadaszadeh 2001 - ? - Turkey - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104280 ? PubMed: Moghadaszadeh 2001 - ? - Turkey - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104281 ? PubMed: Tajsharghi 2005 - M no Sweden - - 0 - - RSMD s6m, w11m SEPN1 SEPN1 2 1 Johan den Dunnen
00104282 E8 PubMed: Moghadaszadeh 2001 - ? - Italy - - 0 - - RSMD - SEPN1 SEPN1 2 2 Johan den Dunnen
00104283 ? PubMed: Moghadaszadeh 2001 - ? - France - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104284 ? PubMed: Moghadaszadeh 2001, PubMed: Allamand 2006 - ? - Turkey - - 0 - - RSMD WB SEPN1 faint SEPN1 SEPN1 2 1 Johan den Dunnen
00104292 16365872.E8 PubMed: Clarke 2006 - F - Australia - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104293 ? PubMed: Allamand 2006 parents distant relatives; 3 affected sisters F - Syria - >45y 0 - - RSMD weak neck muscles infancy; WB SEPN1 faint; ambulant at 45y SEPN1 SEPN1 2 4 Johan den Dunnen
00104294 Pat2 PubMed: Okamoto 2006 - F no Japan - >31y 0 - - RSMD IHC SEPN1 normal; WB SEPN1 reduced size; CPK 130 SEPN1 SEPN1 2 1 Johan den Dunnen
00104295 12192640.F1 PubMed: Ferreiro 2002 - M - Germany - - 0 - - RSMD neonatal hypotonia, poor head control, facial weakness; WB SEPN1 faint; w20m SEPN1 SEPN1 2 1 Johan den Dunnen
00104296 12192640.F2a PubMed: Ferreiro 2002 sister of 12192640.F2b M ? Italy - - 0 - - RSMD neonatal hypotonia, respiratory failure at birth, facial weakness; WB SEPN1 faint; w13m SEPN1 SEPN1 2 1 Johan den Dunnen
00104297 12192640.F2b PubMed: Ferreiro 2002 sister of 12192640.F2a F ? Italy - - 0 - - RSMD neonatal hypotonia, respiratory failure at birth, facial weakness; w15m SEPN1 SEPN1 2 1 Johan den Dunnen
00104298 12192640.F3 PubMed: Ferreiro 2002 - M ? Belgium - - 0 - - RSMD delayed motor milestones, feeding difficulties, facial weakness; w18m SEPN1 SEPN1 2 1 Johan den Dunnen
00104299 12192640.F4 PubMed: Ferreiro 2002 - M ? Germany - - 0 - - RSMD lack of head control, delayed motor milestones, facial weakness; w18m SEPN1 SEPN1 2 1 Johan den Dunnen
00104301 12192640.F5 PubMed: Ferreiro 2002 - F - France - - 0 - - RSMD neonatal hypotonia, weak suckling, lack of head control, facial weakness mild; WB SEPN1 faint; w15m SEPN1 SEPN1 2 1 Johan den Dunnen
00104303 12192640.F6 PubMed: Ferreiro 2002 - M ? France - - 0 - - RSMD poor head control, delayed motor milestones, failure to thrive, no facial weakness; w15m SEPN1 SEPN1 2 1 Johan den Dunnen
00104309 12192640.F10a PubMed: Ferreiro 2002 sister of 12192640.F10b F - France - - 0 - - RSMD neonatal hypotonia, poor head control, facial weakness; w14m SEPN1 SEPN1 2 1 Johan den Dunnen
00104310 12192640.F10b PubMed: Ferreiro 2002 brother of 12192640.F10a M - France - - 0 - - RSMD neonatal hypotonia, poor head control, facial weakness; w14m SEPN1 SEPN1 2 1 Johan den Dunnen
00104313 12192640.F12 PubMed: Ferreiro 2002 - M - France - - 0 - - RSMD delayed motor milestones, thorax deformity, facial weakness; w36m SEPN1 SEPN1 2 1 Johan den Dunnen
00104314 ? PubMed: Venance 2005 - M no Canada - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104327 ? - - F - United States - - 0 - - RSMD - SEPN1 SEPN1 1 1 Tom Winder
00104328 ? - - F - (United States) Arab - 0 - - RSMD - SEPN1 SEPN1 4 1 Tom Winder
00104333 ? - - M - United States - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104334 ? - - M - United States - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104336 ? - - F - Saudi Arabia - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104337 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104338 ? - - F - Switzerland - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104339 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104340 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104341 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104342 ? - - F - Spain - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104343 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104344 ? - - M - Belgium - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104345 ? - - M - United States - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104347 ? - - M - (United States) - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104348 ? PubMed: Maiti 2009 - ? - - - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104349 ? PubMed: Maiti 2009 - ? - - - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104350 ? PubMed: Maiti 2009 - ? - - - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104351 ? PubMed: Maiti 2009 sister died of similar symptoms F - - - 5y6m 0 - - RSMD severe, scoliosis 1y, died of restrictive respiratory failure; w14m SEPN1 SEPN1 2 1 Johan den Dunnen
00104352 ? PubMed: Maiti 2009 - ? - - - - 0 - - RSMD - SEPN1 SEPN1 1 5 Johan den Dunnen
00104353 ? PubMed: Maiti 2009 - ? - - - - 0 - - RSMD SelN level <5% SEPN1 SEPN1 2 1 Johan den Dunnen
00104354 ? PubMed: Maiti 2009 - ? - - - - 0 - - RSMD SelN level 20% SEPN1 SEPN1 2 1 Johan den Dunnen
00104355 ? PubMed: Maiti 2009 - ? - - - - 0 - - RSMD - SEPN1 SEPN1 2 1 Johan den Dunnen
00104356 17951086.1 PubMed: Schara 2008 sibling of 17951086.2 M - Germany - - 0 - - RSMD 6y-scoliosis, rigid spine syndrome; 8y-proximal muscle weakness, no progression, walk >4000m SEPN1 SEPN1 1 1 Johan den Dunnen
00104357 17951086.2 PubMed: Schara 2008 sibling of 17951086.1 F - Germany - - 0 - - RSMD myopathic with cores; 11y-scoliosis, rigid spine syndrome; 18y-proximal muscle weakness, no progression, walk 3000–4000m; 13y-ventilation 2-4h/night; FVC 13y 18% SEPN1 SEPN1 1 1 Johan den Dunnen
00104358 17951086.3 PubMed: Schara 2008 sibling of 17951086.4 F - Germany - - 0 - - RSMD 12y-scoliosis, rigid spine syndrome; 14y-proximal muscle weakness, no progression, walk 1000m; not ventilated; FVC 13y 44% SEPN1 SEPN1 2 1 Johan den Dunnen
00104359 17951086.4 PubMed: Schara 2008 sibling of 17951086.3 F - Germany - - 0 - - RSMD myopathic with cores; 15y-scoliosis, rigid spine syndrome; 17y-proximal muscle weakness, slow progression, walk 1000–2000m; not ventilated; FVC 16.6y 46% SEPN1 SEPN1 2 1 Johan den Dunnen
00104360 17951086.5 PubMed: Schara 2008 - M - Germany - - 0 - - RSMD myopathic with multiminicores; 7y-scoliosis, 8y-rigid spine syndrome; 13y-proximal muscle weakness, no progression, walk 1000–2000m; not ventilated; FVC 11y 65% SEPN1 SEPN1 2 1 Johan den Dunnen
00104361 17951086.6 PubMed: Schara 2008 - F - Germany - - 0 - - RSMD myopathic with unspecific changes; 4.5y-rigid spine syndrome; 7y-proximal muscle weakness, no progression, walk 1000–2000m; not ventilated; FVC 7y 39% SEPN1 SEPN1 2 1 Johan den Dunnen
00104362 17951086.7 PubMed: Schara 2008 - F - Germany - - 0 - - RSMD myopathic with multiminicores; 12y-scoliosis, rigid spine syndrome; 13y-proximal muscle weakness, slow progression, walk 1000m; 10y-ventilation 8-9h/night; FVC 9y 50.5% SEPN1 SEPN1 2 1 Johan den Dunnen
00104363 17951086.8 PubMed: Sponholz 2006 - M - Germany - - 0 - - RSMD myopathic with unspecific changes; 18y-scoliosis, rigid spine syndrome; 21y-proximal muscle weakness, slow progression, walk>4000m; not ventilated; FVC 13y 62% SEPN1 SEPN1 2 1 Johan den Dunnen
00104364 17951086.9 PubMed: Schara 2008 sibling of 17951086.10 F yes Turkey - - 0 - - RSMD 5y-proximal muscle weakness, no progression, walk>4000m SEPN1 SEPN1 2 1 Johan den Dunnen
00104365 17951086.10 PubMed: Schara 2008 sibling of 17951086.9 F yes Turkey - - 0 - - RSMD unspecific with fiber size variability; 13y-scoliosis; 15y-proximal muscle weakness, slow progression, walk 500–1000m; 10y-intermittend ventilation night; FVC 10y 33% SEPN1 SEPN1 2 1 Johan den Dunnen
00104366 17951086.11 PubMed: Schara 2008 - F yes Turkey - - 0 - - RSMD congenital fiber–type dysproportion; 11y-scoliosis, rigid spine syndrome, contractures in both elbows; 20y-proximal muscle weakness, no progression, walk>4000m; 12y-intermittend ventilation night; FVC 12y 56% SEPN1 SEPN1 2 1 Johan den Dunnen
00104367 ? - - F - (United States) - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104368 ? - - M - (United States) Eastern Europe - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104370 ? - - - - Sri Lanka - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104371 ? - - F - (United States) Hispanic - 0 - - RSMD - SEPN1 SEPN1 1 1 Tom Winder
00104375 ? - - - - United States - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104376 ? - - M - Germany German - 0 - - RSMD not able to raise head from early childhood on, facies myopathica; w15m; CPK 300 U/l SEPN1 SEPN1 2 1 Wolfram Kress
00104377 SEPN1_00063 - consanguineous parents with 1 affected and 1 unaffected child M yes Azerbaijan - - 0 - - RSMD 5m SEPN1 SEPN1 1 1 Varvara Kadnikova
00104378 ? - - F - (United States) Asian - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104379 ? - - M - Germany - - 0 - - RSMD rigid spine syndrome; congenital muscle weakness, proximal, body size and weight below 3rd percentile, 2.5y when diagnosed SEPN1 SEPN1 2 1 Wolfram Kress
00104411 ? - - M - Germany - - 0 - - RSMD rigid spine syndrome; 6y-rigid spine, poor head control; CPK normal SEPN1 SEPN1 2 1 Wolfram Kress
00104412 ? - - F - United States Arab - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104413 ? - - F - United States - - 0 - - RSMD - SEPN1 SEPN1 2 1 Tom Winder
00104414 ? - - M - United States - - 0 - - RSMD mildly atrophic fibers. SEPN1 SEPN1 2 1 Tom Winder
00104415 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104416 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104417 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104418 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104419 ? - - ? - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104420 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104421 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104422 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104423 ? - - M - Netherlands - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 2 1 Shu Yau
00104424 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 2 1 Shu Yau
00104425 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104426 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 2 1 Shu Yau
00104427 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104428 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104429 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104430 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104431 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104432 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104433 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 2 1 Shu Yau
00104434 ? - - M - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104435 ? - - F - Iran - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
00104436 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104437 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104438 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104439 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease/RSMD-1? SEPN1 SEPN1 1 1 Shu Yau
00104440 ? - - F - United Kingdom (Great Britain) - - 0 - - RSMD mulitminicore disease (MmD); dystrophy, muscular, rigid spine (RSMD-1) SEPN1 SEPN1 2 1 Shu Yau
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