Disease #05121

Official abbreviation MD
Name dystrophy, muscular (MD)
OMIM ID -
Inheritance -
Individuals reported having this disease 2392
Phenotype entries for this disease 466
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

2392 entries on 24 pages. Showing entries 1 - 100.
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00002999 - - - - - - - - - - - ?, MD congenital discant severe hearing loss USH2A USH2A 2 1 Marcel Nelen
00003000 - - - - - - - - - - - ?, MD bowlshaped hearing loss CDH23 CDH23, MYO6 3 1 Marcel Nelen
00005988 - - - - ? Netherlands - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Hans Gille
00005989 - - - - ? Netherlands - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Rob B. van der Luijt
00005990 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00005991 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00005992 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00005993 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00005995 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00005997 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00005998 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00005999 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Genevieve Michils
00006000 - - - - ? Belgium - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA1 1 1 Katrien Storm
00007495 - - - - ? Netherlands - - - - - cancer, breast, MD - BRCA1, BRCA2 BRCA2 1 1 Marjolijn JL Ligtenberg
00035607 - - - - - Germany - - 0 - - MD suspected muscular dystrophy DMD DMD 1 1 Andreas Laner
00035613 - - - - - Germany - - 0 - - MD myopathy vague, suspected muscular dystrophy, loss of ambulatory ability since the seventh year of life, free walking at 2.5y, hypotonia DMD DMD 1 1 Andreas Laner
00036040 - - - - - Germany - - 0 - - MD - LAMA2 LAMA2 1 1 Andreas Laner
00036041 77186 - - M ? Libya - - 0 - - MD, MDC, myopathy, mitochondrial , Muscular Dystrophy, no further information LAMA2 LAMA2 2 1 Andreas Laner
00036047 - - - - - Germany - - 0 - - MD - LAMA2 LAMA2 1 1 Andreas Laner
00057848 - - - F - ? (unknown) - - 0 - - MD - B3GALNT2 B3GALNT2 2 1 Johan den Dunnen
00058417 - PubMed: Vasli 2012 - - - - - - 0 - - MD - TTN TTN 2 1 Claire Chauveau
00074351 - PubMed: Baranzini 1997 12 BMD/DMD patients and 15 control males M no Argentina - - 0 - - MD 12 BMD/DMD patients, 15 controls DMD DMD 1 27 Johan den Dunnen
00074352 - PubMed: Baranzini 1997 12 BMD/DMD patients and 15 control males M no Argentina - - 0 - - MD 12 BMD/DMD patients, 15 controls DMD DMD 1 27 Johan den Dunnen
00074353 - PubMed: Baranzini 1997 12 BMD/DMD patients and 15 control males M no Argentina - - 0 - - MD 12 BMD/DMD patients, 15 controls DMD DMD 1 27 Johan den Dunnen
00074354 - PubMed: Baranzini 1997 12 BMD/DMD patients and 15 control males M no Argentina - - 0 - - MD 12 BMD/DMD patients, 15 controls DMD DMD 1 27 Johan den Dunnen
00074355 - PubMed: Baranzini 1997 - M no Argentina - - 0 - - MD 12 BMD/DMD patients DMD DMD 1 12 Johan den Dunnen
00074356 - PubMed: Baranzini 1997 - M no Argentina - - 0 - - MD 12 BMD/DMD patients DMD DMD 1 12 Johan den Dunnen
00074357 - PubMed: Baranzini 1997 - M no Argentina - - 0 - - MD 12 BMD/DMD patients DMD DMD 1 12 Johan den Dunnen
00074358 - PubMed: Baranzini 1997 - M no Argentina - - 0 - - MD 12 BMD/DMD patients DMD DMD 1 12 Johan den Dunnen
00074359 - PubMed: Baranzini 1997 - M no Argentina - - 0 - - MD 12 BMD/DMD patients DMD DMD 1 12 Johan den Dunnen
00074360 - PubMed: Baranzini 1997 - M no Argentina - - 0 - - MD 12 BMD/DMD patients DMD DMD 1 12 Johan den Dunnen
00074361 - PubMed: Baranzini 1997 - M no Argentina - - 0 - - MD 12 BMD/DMD patients DMD DMD 1 12 Johan den Dunnen
00074387 #323 PubMed: Luce 2018 adopted, dizygotic twin sister without symptoms F no Argentina - - 0 - - MD symptomatic female; muscular biopsy compatible with dystrophinopathy; no mental retardation; raised CPK 15.000 UI/L DMD DMD 1 1 Florencia Giliberto
00078786 - PubMed: Deschauer 2011 - F - Germany - - 0 - - MD raised CPK (HP:0003236) 30x; >70y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078787 - PubMed: Sarkozy 2012 - M - Germany - - 0 - - MD raised CPK (HP:0003236) 241-2603; >52y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078788 - PubMed: Sarkozy 2012 brother of 21739273-Pat3b M - Germany - - 0 - - MD raised CPK (HP:0003236) 1500-6100; >56y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078789 - PubMed: Sarkozy 2012 sister of 21739273-Pat3a F - Germany - - 0 - - MD raised CPK (HP:0003236) 2280; >52y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078790 - PubMed: Sarkozy 2012 - M - Germany - - 0 - - MD raised CPK (HP:0003236) 5000; >35y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078860 - PubMed: Schessl 2012 consanguineous grandparents M yes Afghanistan - - 0 - - MD adult onset weakness proximal muscle, atrophy shoulder girdle/lower limbs, Trendelenbur/ Gower signs; EMG myopathy; raised CPK (HP:0003236) 3184 U/l; >35y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078861 - PubMed: Schessl 2012 - M - Germany - - 0 - - MD adult onset, progressive, weakness and atrophy hamstrings and lower limbs; raised CPK (HP:0003236) 9809 U/l; >49y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078863 - PubMed: Schessl 2012 sister with similar symptoms F - Germany - - 0 - - MD adult onset, MRI muscle asymmetric fatty degeneration biceps femoris; raised CPK (HP:0003236) 9000 U/l; >54y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00094021 - - - F no Taiwan Han Chinese >51y 0 - - MD - DNAJB6 DNAJB6 1 1 Yi-Chung Lee
00102163 11287370-Pat1 PubMed: Di Blasi 2001 2-generation family, affected brother/sister, unaffected carrier parents and sister M - Italy - >39y 0 - - MD dystrophy, muscular; 32y-difficulty getting up from floor/climbing stairs/holding heavy weights, severe contractures neck/arm muscles preventing head rotation/bending39y-mild limb-girdle weakness; CPK: 4x LAMA2 LAMA2 2 4 Johan den Dunnen
00102209 18700894-Pat11 PubMed: Oliveira 2008 - M - Portugal - >24y 0 - - MD slowly progressive spastic paraparesis; no contractures; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 838; slight mental retardation; spastic gait LAMA2 LAMA2 2 1 Rosário dos Santos
00102326 ? PubMed: Rajakulendran 2011 - F - - - - 0 - - MD dystrophy, muscular, congenital LAMA2 LAMA2 2 2 Patricio Brand
00102341 11287370-Pat2 PubMed: Di Blasi 2001 2-generation family, affected brother/sister, unaffected carrier parents and sister F - Italy - >36y 0 - - MD dystrophy, muscular; difficulty walking, congenital bilateral hip dislocation; CPK: 2x LAMA2 LAMA2 2 4 Johan den Dunnen
00102517 21896784-Pat45 PubMed: Piluso 2011 2-generation family, 2 affected sisters - no - - - 0 - - MD dystrophy, muscular; muscular dystrophy Becker/limb-girdle like LAMA2 LAMA2 1 1 Johan den Dunnen
00102718 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - M - Portugal - - 0 - - MD, MDC - LAMA2 LAMA2 2 1 Jorge Oliveira
00102724 - PubMed: Oliveira 2018, Journal: Oliveira 2018 1-generation family, 2 affecteds (1M, 1F) F - Portugal - - 0 - - MD dystrophy, muscular, limb-girdle; gait mild valgus posture both feet, reflexes sluggish, no muscle pseudohypertrophy/wasting; muscle biopsy overtly dystrophic; 7y-Gowersí manoeuvre; CPK: 4025-4621 UI/L; s7m, w23m LAMA2 LAMA2 2 2 Jorge Oliveira
00102725 - PubMed: Oliveira 2018, Journal: Oliveira 2018 1-generation family, 2 affecteds (1M, 1F) M - Portugal - - 0 - - MD running difficulties since his thirties, progressive lower limb weakness. • Brain MRI: white matter changes. • Noticed upper limb weakness 10yrs later. • Paresis (4/5 grade) proximal in upper limbs, distal and proximal in lower limbs. • Paresis of trunk and neck flexion (grade 2 and 4+, respectively). • Lordosis and myopathic gait with slight steppage. LAMA2 LAMA2 2 1 Jorge Oliveira
00102726 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - F - Portugal - - 0 - - MD, MDC •Gait impairment since 1.5yrs of age. •Unable to stand up or walk unaided, in the last 2 yrs. •Brain MRI: white matter changes. •Tetraparesis grade 4+/5 in upper limbs, grade 4-/5 in lower limbs. •Mild intellectual disability. •Partial epilepsy with secondary generalization, due to CNS structural defects (MRI below), with frequent seizures, refractory to treatment. LAMA2 LAMA2 2 1 Jorge Oliveira
00102734 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - M ? Portugal - - 0 - - MD gait impairment since youth, stable throughout life. •Initially investigated with the suspicion of LGMD, but without specific etiology. •Proximal tetraparesis(grade 4/5, 4-/5 in lower limbs). •Currently unable to walk independently (wheelchair-bound). •Moderate intellectual disability (dementia over the last 2 yrs). •Brain MRI: white matter changes. LAMA2 LAMA2 1 1 Jorge Oliveira
00103126 24534542-Pat1 PubMed: Marques 2014 - M - Portugal - >55y 0 - - MD Delayed gross motor development (HP:0002194), proximal muscle weakness (HP:0003701), difficulty running (HP:0009046), frequent falls (HP:0002359), gowers sign (HP:0003391), spinal rigidity (HP:0003306), hyperintensity of cerebral white matter on MRI (HP:0030890), EMG: myopathic abnormalities (HP:0003458), abnormal cardiac ventricular function (HP:0030872), muscular dystrophy (HP:0003560) LAMA2 LAMA2 2 1 Jorge Oliveira
00103207 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - F - Portugal - - 0 - - MD, MDC Motor delay (HP:0001270), Hyperlordosis (HP:0003307), Elevated serum creatine phosphokinase (HP:0003236), Intellectual disability (HP:0001249) - LAMA2 2 1 Jorge Oliveira
00103245 24327385-Pat, 1456743-III-3 PubMed: van Engelen 1992, PubMed: Kevelam 2014 4-generation family, 3 affected sibs F - - - >29y 0 - - MD Elevated serum creatine phosphokinase (HP:0003236), muscular dystrophy (HP:0003560), hyperintensity of cerebral white matter on MRI (HP:0030890), generalized tonic-clonic seizures (HP:0007334) (22y), difficulty walking (HP:0002355), distal muscle weakness (HP:0002460), spastic gait (HP:0002064), inability to walk (HP:0002540) (28y), bilateral myopia (HP:0000545). Slightly increased calf bulk, and bilateral pes cavus without muscle wasting. Bilateral predominantly right-sided pyramidal and cerebellar syndrome. Cognitive functions were normal. - LAMA2 2 3 Jorge Oliveira
00103324 10852549-Pat PubMed: Di Blasi 2000 - M - - - >29y 0 - - MD Motor delay (HP:0001270), decreased patellar reflex (HP:0011808), pes cavus (HP:0001761), wasting of thigh muscle (HP:0008956), calf muscle hypertrophy (HP:0008981), elevated serum creatine phosphokinase (HP:0003236),hyperintensity of cerebral white matter on MRI (HP:0030890), muscular dystrophy (HP:0003560), rimmed vacuoles (HP:0003805) LAMA2 LAMA2 2 1 Jorge Oliveira
00103325 27858741-Pat1 PubMed: Nelson 2015 - M no Turkey - >38y 0 - - MD Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), joint contracture (HP:0001371), calf muscle hypertrophy (HP:0008981), dilated cardiomyopathy (HP:0001644) - LAMA2 1 1 Jorge Oliveira
00103326 27858741-Pat2 PubMed: Nelson 2015 - M yes France Algerian parents >32y 0 - - MD Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), axial muscle weakness (HP:0003327), joint contracture (HP:0001371), polymicrogyria (HP:0002126), lissencephaly (HP:0001339), follicular hyperkeratosis (HP:0007502) LAMA2 LAMA2 1 1 Jorge Oliveira
00103949 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - ? Portugal - - 0 - - MD - LAMA2 LAMA2 1 1 Jorge Oliveira
00103950 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - yes Portugal - - 0 - - MD - LAMA2 LAMA2 1 1 Jorge Oliveira
00103951 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - ? Portugal - - 0 - - MD - LAMA2 LAMA2 1 1 Jorge Oliveira
00103952 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - - Portugal - - 0 - - MD - LAMA2 LAMA2 2 1 Jorge Oliveira
00103969 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - - Portugal - - 0 - - MD - LAMA2 LAMA2 2 1 Jorge Oliveira
00103970 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - - Portugal - - 0 - - MD - LAMA2 LAMA2 2 1 Jorge Oliveira
00103971 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - - Portugal - - 0 - - MD - LAMA2 LAMA2 2 1 Jorge Oliveira
00103972 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - M - Portugal - >25y 0 - - MD, MDC - LAMA2 LAMA2 3 1 Jorge Oliveira
00103973 28445022-Pat PubMed: Kim 2017 1-generation family, 2 affecteds (2F) F - (Korea, South (Republic)) - >04y 0 - - MD Elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), muscular dystrophy (HP:0003560) - LAMA2 2 1 Jorge Oliveira
00119128 26322222-Pat PubMed: Liang 2015, Journal: Liang 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Taiwan Han Chinese - 0 - - MD see paper; ..., congenital muscular dystrophy, fatty liver, infantile-onset cataract TRAPPC11 TRAPPC11 2 1 Johan den Dunnen
00131941 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - F - Portugal - >33y 0 - - MD - LAMA2 LAMA2 2 1 Jorge Oliveira
00132014 - - - F - United States - - 0 - - MD Muscular dystrophy (HP:0003560) LAMA2 LAMA2 1 1 Angela Gruber
00132016 - - - M - United States - - 0 - - MD, MDC Muscle weakness (HP:0001324) LAMA2 LAMA2 1 1 Angela Gruber
00133518 - PubMed: Barresi 2000, OMIM:var0003 with DCM, paternal cousin of SGCB_00003aa M no Italy - 27y 0 - - MD 26y-inable to walk (HP:0002540); 2540 elevated CPK (HP:0003236) SGCA SGCB 1 1 Johan den Dunnen
00133525 - PubMed: Duggan - - - - United States/Italy - 0 - - MD >13y-inable to walk (HP:0002540) SGCA SGCB 1 1 Johan den Dunnen
00133534 - PubMed: Duggan second degree cousins of 16934466-IV.1 and mother III.4, 4 generation family; 31 in Duggan 1997 F - Italy - >21y 0 - - MD severe; 10y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133535 - PubMed: Fanin 2003, OMIM:var0003 - F - Italy - >27y 0 - - MD 10y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133536 - PubMed: Barresi 2000, OMIM:var0003 paternal cousin of SGCB_00003# F - Italy - >28y 0 - - MD no CMD; 15y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133541 - Rivas 2004, Acta Myologica XXIII: 159 - F - Spain - - 0 - - MD severe; 15x elevated CPK (HP:0003236) SGCA SGCB 2 1 Johan den Dunnen
00133543 - PubMed: Duggan - - - - United States/Italy - 0 - - MD 11y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133545 - PubMed: Duggan - - - - United States/Italy - 0 - - MD 15y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133546 - PubMed: Ginjaar - F ? Netherlands - >11y 0 - - MD >11y-inable to walk (HP:0002540); 60x elevated CPK (HP:0003236) SGCA SGCB 1 1 Ieke Ginjaar
00133547 - PubMed: Ginjaar - F - Netherlands - >47y 0 - - MD 44y-inable to walk (HP:0002540); 24x elevated CPK (HP:0003236) SGCA SGCB 2 1 Ieke Ginjaar
00133548 - Ginjaar WMS2005 - - no Netherlands - - 0 - - MD - SGCA SGCB 2 1 Ieke Ginjaar
00133549 - PubMed: Duggan - - - - United States/Italy - 0 - - MD 14y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133550 - PubMed: Fanin 2003 - M - Italy - >20y 0 - - MD 14y6m-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133553 - PubMed: dos Santos parents carrier M - Portugal - - 0 - - MD - SGCA SGCB 2 3 Johan den Dunnen
00133565 - PubMed: Kaindl 2005 East Anatolia, 6 affecteds - - Turkey - 21y-35y 0 - - MD hyperlaxity and joint contractures, chest pain, palpitations, dyspnea, several deaths of heart failure; 8-12y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133567 - PubMed: Bonnemann, PubMed: Duggan, OMIM:var0003 - F - Italy - - 0 - - MD 14y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133573 - PubMed: Duggan - - - - United States/Italy - 0 - - MD >11y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133577 - PubMed: Duggan - - - - United States/Italy - 0 - - MD >8y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133584 - PubMed: Love - M - India - >12y 0 - - MD 1400 elevated CPK (HP:0003236) SGCA SGCB 2 1 Johan den Dunnen
00133585 - PubMed: Fanin 2003, OMIM:var0003 deceased of cardiac failure M - Italy - 14y 0 - - MD 12y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133586 - PubMed: Fanin 2003, OMIM:var0003 - F - Italy - >9y 0 - - MD high CPK (HP:0003236); >9y-inable to walk (HP:0002540) SGCA SGCB 2 1 Johan den Dunnen
00133596 - PubMed: Duggan second degree cousins of 16934466-IV.4 and relative III.4, 4 generation family; 31 in Duggan 1997 M - Italy - - 0 - - MD - SGCA SGCB 2 1 Johan den Dunnen
00133606 - - - - - United States Arab - 0 - - MD - SGCA SGCB 2 1 Tom Winder
00133666 - PubMed: Duggan 1997, OMIM:var0003 - F - United States - - 0 - - MD - SGCD SGCD 1 1 Johan den Dunnen
00133668 - PubMed: Nigro, PubMed: Moreira, OMIM:var0001 3 affecteds (1M, 2F) - - Brazil - - 0 - - MD - SGCD SGCD 2 3 Johan den Dunnen
00133669 - PubMed: Nigro, PubMed: Moreira, OMIM:var0001 3 affecteds (1M, 2F) - - Brazil - - 0 - - MD - SGCD SGCD 2 3 Johan den Dunnen
00133670 - PubMed: Nigro, PubMed: Moreira, OMIM:var0001 - M - Brazil - - 0 - - MD - SGCD SGCD 2 1 Johan den Dunnen
00133671 - PubMed: Nigro, PubMed: Moreira, OMIM:var0001 - F - Brazil - - 0 - - MD - SGCD SGCD 2 1 Johan den Dunnen
00133672 - PubMed: Duggan 1997, OMIM:var0002 child adopted F - United States - - 0 - - MD - SGCD SGCD 2 1 Johan den Dunnen
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