Phenotypes for disease #04286 (LGMD1 (dystrophy, muscular, limb-girdle, autosomal dominant, type 1 (LGMD-1)))

18 entries on 1 page. Showing entries 1 - 18.
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AscendingPhenotype ID     
Phenotype details     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000086232 LGMD-AD - - Familial - - - - - Johan den Dunnen 00108759
0000086263 LGMD-AD - - Familial - - - - - Johan den Dunnen 00108790
0000153606 muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 3x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Isolated (sporadic) - - 38y - - Johan den Dunnen 00205425
0000153607 muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 8x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Isolated (sporadic) - - 28y-40y - - Johan den Dunnen 00205426
0000153608 muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; no elevated serum creatine phosphokinase (-HP:0003236) limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Isolated (sporadic) - - 40y - - Johan den Dunnen 00205427
0000153609 muscle weakness proximal upper limbs mild/moderate, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 2-3x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 45y-50y - - Johan den Dunnen 00205428
0000153610 muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 3x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 20y-60y - - Johan den Dunnen 00205429
0000153612 muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 10x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 20y-55y - - Johan den Dunnen 00205431
0000153613 muscle weakness proximal upper limbs mild/severe, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 3.5x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 14y-55y - - Johan den Dunnen 00205432
0000153614 limb girdle weakness; no elevated serum creatine phosphokinase (-HP:0003236) limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - - - muscle biopsy suggestive of inclusion body myopathy Tom Winder 00205433
0000153615 muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 2x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 20y-50y - - Johan den Dunnen 00205434
0000153616 proximal predominant weakness arms/legs, waddling gait; 56y-motorized wheelchair; elevated serum creatine phosphokinase (HP:0003236) 1118; still walking >52y limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 30y difficulty climbing stairs - Johan den Dunnen 00205435
0000153617 proximal predominant weakness arms/legs, Gower’s sign, waddling gait; 56y-motorized wheelchair; short duration small amplitude polyphasic MUPs quadriceps/deltoid muscles; elevated serum creatine phosphokinase (HP:0003236) 632; still walking >56y limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 33y difficulty climbing stairs - Johan den Dunnen 00205436
0000153618 proximal predominant weakness legs, mildly waddling gait; elevated serum creatine phosphokinase (HP:0003236) 543; still walking >37y limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 32y difficulty climbing stairs, rising from a sitting position, myalgias - Johan den Dunnen 00205437
0000153619 mild proximal predominant weakness lower extremities; EMG fibs, PSW, increased insertional activity, with early recruitment small-amplitude narrow-duration MUPs in iliopsoas/quadriceps muscles; elevated serum creatine phosphokinase (HP:0003236) 742; still walking >41y limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 35y trouble climbing stairs/rising from sitting position - Johan den Dunnen 00205438
0000153620 proximal leg weakness with waddling gait, Gower’s maneuver; elevated serum creatine phosphokinase (HP:0003236) 233; still walking >35y limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 35y fatigue, trouble climbing stairs/rising from sitting position - Johan den Dunnen 00205439
0000153621 muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 8x limb-girdle muscular dystrophy, autosomal dominant LGMD-1E Familial, autosomal dominant - - 30y-55y - - Johan den Dunnen 00205440
0000295295 LGMDR1-CAPN3 related LGMDR1-CAPN3 related LGMDR1-CAPN3 related Familial, autosomal recessive 19y 21y 12y lower limb weakness - JA Bevilacqua 00402533
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