Phenotypes for disease #05117 (MDDG (dystrophy, muscular, dystroglycanopathy (MDDG)))

172 entries on 2 pages. Showing entries 1 - 100.
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Phenotype details     
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Diagnosis/Definite     
Inheritance     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
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Individual ID     
0000203565 8y-frequent falls, involuntary movements, spastic limb paresis; 13y-lost ambulation; 25y-deteriorating speech; 32y-loss of speech, loss cognitive skills, ... alpha dystroglycanopathy - Familial, autosomal recessive 46y - 08y frequent falls - Johan den Dunnen 00265779
0000236355 onset middle age, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb, axial; proximal lower limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 4310 U/L; muscle biopsy myopathic, dystrophic; involvement of gluteus maximus, adductor magnus, obturatorius externeus, hamstring, adductor, rectus femoris, tibialis anterior and gastrocnemius externus muscles; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 58y - - - α-DG deficiency Johan den Dunnen 00311099
0000236356 onset juvenile, slowly progressive; walks independent; left ventricular ejection fraction 50%; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.73; muscle weakness proximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 673 U/L; muscle biopsy myopathic; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 34y - - - α-DG deficiency Johan den Dunnen 00311100
0000236357 onset young adult, progressive; walks independent; left ventricular ejection fraction 50%; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.65; muscle weakness proximal upper limb and lower limb; no contractures; mild scapular winging; no scoliosis; serum creatine kinase 325 U/L; muscle biopsy dystrophic; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 27y - - - - Johan den Dunnen 00311101
0000236358 onset juvenile, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.73; muscle weakness proximal upper limb and lower limb, anterior tibial, axial; proximal lower limb atrophy; contractures lower limb; scapular winging; no scoliosis; serum creatine kinase 451 U/L; muscle biopsy dystrophic; involvement of paraspinal, glutei, quadriceps and hamstring muscles; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 34y - - - no indications Johan den Dunnen 00311102
0000236359 onset juvenile, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.65; muscle weakness proximal lower limb; distal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 1850 U/L; muscle biopsy myopathic; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 51y - - - - Johan den Dunnen 00311103
0000236360 onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb (lower limb more prominent), mild neck; mild pseudohypertrophy of gastrocnemius, mild atrophy of biceps brachii and vastus lateralis; no contractures; no scapular winging; no scoliosis; serum creatine kinase 4109 U/L; muscle biopsy dystrophic, internal nuclei; sartorius, gracilis and semitendinosus relatively preserved. involvement of other thigh muscles; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 28y - - - no indications Johan den Dunnen 00311104
0000236361 onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb (lower limb more prominent), mild neck; mild pseudohypertrophy of gastrocnemius; no contractures; no scapular winging; no scoliosis; serum creatine kinase 5619 U/L; muscle biopsy myopathic, dystrophic; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 25y - - - no indications Johan den Dunnen 00311105
0000236362 onset childhood, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb; proximal upper limb, neck and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 390 U/L; muscle biopsy glycogen accumulation, abnormal mitochondria; involvement of hamstring muscles; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 63y - - - - Johan den Dunnen 00311106
0000236363 onset childhood, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.81; muscle weakness p roximal and distal upper limb and lower limb; proximal and distal upper limb atrophy,distal lower limb atrophy; contractures lower limb; no scapular winging; scoliosis; serum creatine kinase 2787 U/L; muscle biopsy myopathic, dystrophic; symmetric involvement in back and abdominal muscles. involvement of gluteal, vastus medius, intermedialis and lateralis, sartorius, rectus femoris, biceps femoris, semimembranosus and semitendinosus muscles. relative sparing of m.soleus and adductor longus. involvement of peroneus longus muscles, with relative sparing of tibialis anterior; EMG myopathic, dystrophic dystroglycanopathy - Familial, autosomal recessive 12y - - - no indications Johan den Dunnen 00311107
0000236364 onset infantile, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.71; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb, paraspinal and scapular muscle atrophy; contractures lower limb and proximal upper limb, spinal rigidity; scapular winging; no scoliosis; serum creatine kinase 3850 U/L; muscle biopsy myopathic, dystrophic; involvement of thigh, piriformis and gluteus maximus muscles, slight involvement of vastus lateralis and rectus femoris. involvement of triceps suralis and biceps and biceps brachailis; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 11y - - - α-DG deficiency Johan den Dunnen 00311108
0000236365 onset juvenile, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.66; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 1520 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; dystroglycanopathy - Familial, autosomal recessive 45y - - - α-DG deficiency Johan den Dunnen 00311109
0000236366 onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.59; muscle weakness p roximal upper limb and lower limb; proximal upper limb and scapular muscle atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2390 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 54y - - - α-DG deficiency Johan den Dunnen 00311110
0000236367 onset childhood, slowly progressive; wheelchair bound; previous ventricular septal defects; slight insufficiency of mitral and tricuspid valves; myopia; no brain abnormalities; no intellectual disability; muscle weakness proximal and distal upper limb and lower limb; athletic and muscular build, distal lower limb hypertrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2336 U/L; muscle biopsy myopathic; involvement of dorsalis muscles, gluteus medius and minimus, and iliopsoas muscle with relative sparing of semitendinosus muscle. moderate involvement of adductor magnus muscles. slight involvement of gastrocnemius muscles with its hypertrophy without significant edema; EMG myopathic, positive repetitive nerve stimulation of quadriceps muscle dystroglycanopathy - Familial, autosomal recessive 13y - - - no indications Johan den Dunnen 00311111
0000236368 onset young adult, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; few white matter lesions; no intellectual disability; forced vital capacity 0.34; muscle weakness proximal upper limb and lower limb; proximal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 3500 U/L; muscle biopsy myopathic; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 47y - - - α-DG deficiency Johan den Dunnen 00311112
0000236369 onset childhood, non-progressive; walks independent; left ventricular enlargement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 2,553-6,800 U/L; muscle biopsy myopathic; minimal high-signal changes in the right shoulder and left pelvic and thigh regions; EMG normal dystroglycanopathy - Familial, autosomal recessive 11y - - - α-DG deficiency Johan den Dunnen 00311113
0000236370 onset childhood, non-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity normal; muscle weakness proximal and distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 890-4,687 U/L; muscle biopsy normal; EMG normal dystroglycanopathy - Familial, autosomal recessive 13y - - - no indications Johan den Dunnen 00311114
0000236371 onset infantile, non-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb; no contractures; no scapular winging; no scoliosis; serum creatine kinase 586-1,012 U/L; muscle biopsy dystrophic; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 26y - - - α-DG deficiency Johan den Dunnen 00311115
0000236372 onset infantile, progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.76; muscle weakness p roximal upper limb and lower limb, axial; proximal upper limb and proximal lower limb and scapular muscle atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 2761 U/L; muscle biopsy dystrophic; involvement in lower limbs; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 40y - - - - Johan den Dunnen 00311116
0000236373 onset childhood, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity 0.72; muscle weakness p roximal upper limb and lower limb, distal lower limb, facial; distal lower limb hypertrophy, facial atrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 7646 U/L; muscle biopsy myopathic; preferential involvement of paraspinal, posterior thigh and medial gastrocnemius muscles; hypertrophic appearance of lower leg muscles; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 32y - - - reduced α-DG glycosylation Johan den Dunnen 00311117
0000236374 onset childhood, slowly progressive; walks independent; no eye anomalies; no brain abnormalities; mild mental retardation; muscle weakness p roximal upper limb and lower limb, distal lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 5086 U/L; muscle biopsy myopathic, dystrophic; preferential involvement of paraspinal, posterior thigh and medial gastrocnemius muscles; relative sparing and hypertrophic appearance of lower leg muscles; dystroglycanopathy - Familial, autosomal recessive 28y - - - reduced α-DG glycosylation Johan den Dunnen 00311118
0000236375 onset infantile, slowly progressive; wheelchair bound; left ventricular ejection fraction 50%; no eye anomalies; left frontal cortical atrophy; cognitive impairment; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb atrophy; contractures lower limb and proximal upper limb, spinal rigidity; no scapular winging; scoliosis; serum creatine kinase 585 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; dystroglycanopathy - Familial, autosomal recessive 54y - - - α-DG and merosin deficiency Johan den Dunnen 00311119
0000236376 onset childhood, progressive; walks independent; no cardiac involvement; no eye anomalies; central and cortical atrophy; cognitive impairment; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb and scapular muscle atrophy; spinal rigidity; scapular winging; no scoliosis; serum creatine kinase 1590 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, gluteus maximus and all hamstring muscles (anterior compartment quite well-preserved). mild involvement of medial gastrocnemius muscle; dystroglycanopathy - Familial, autosomal recessive 26y - - - α-DG deficiency Johan den Dunnen 00311120
0000236377 onset foetal, progressive; wheelchair bound; left ventricular fractional shortening 25%; no eye anomalies; microcephaly; mild mental retardation; forced vital capacity 0.62; muscle weakness proximal upper limb and lower limb, distal lower limb, axial; proximal upper limb, neck and scapular muscle atrophy; contractures lower limb; no scapular winging; scoliosis; serum creatine kinase 765 U/L; muscle biopsy dystrophic; EMG normal dystroglycanopathy - Familial, autosomal recessive 17y - - - α-DG deficiency Johan den Dunnen 00311121
0000236378 onset congenital, progressive; walks independent; dilated cardiomyopathy; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal upper limb and lower limb, axial; proximal upper limb, neck, paraspinal and scapular muscle atrophy; spinal rigidity; no scapular winging; no scoliosis; serum creatine kinase 1,980-18,900 U/L; muscle biopsy myopathic, dystrophic; muscle imaging normal; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 18y - - - α-DG deficiency Johan den Dunnen 00311122
0000236379 onset congenital, slowly-progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity normal; muscle weakness proximal and distal upper limb and lower limb; no contractures; no scapular winging; no scoliosis; serum creatine kinase 3,307-7,975 U/L; muscle biopsy dystrophic; muscle imaging normal; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 17y - - - no indications Johan den Dunnen 00311123
0000236380 onset middle age, slowly progressive; walks independent; no cardiac involvement; no eye anomalies; no brain abnormalities; mild mental retardation; forced vital capacity 0.83; muscle weakness proximal and distal lower limb; proximal upper limb atrophy; no contractures; no scapular winging; no scoliosis; serum creatine kinase 2615 U/L; muscle biopsy myopathic, dystrophic; severe involvement of paraspinal, glutei, adductor, rectus femoris, semimembranosus, long head of biceps femoris and soleus muscles. moderate involvement of gastrocnemius and milder involvement of semitendinosus muscles; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 61y - - - - Johan den Dunnen 00311124
0000236381 onset young adult, slowly progressive; wheelchair bound; no cardiac involvement; no eye anomalies; no brain abnormalities; no intellectual disability; forced vital capacity 0.56; muscle weakness proximal upper limb and lower limb; distal lower limb hypertrophy; no contractures; scapular winging; no scoliosis; serum creatine kinase 3120 U/L; muscle biopsy dystrophic; severe involvement of hip adductors, hamstring muscles and rectus femoris; EMG myopathic dystroglycanopathy - Familial, autosomal recessive 32y - - - - Johan den Dunnen 00311125
0000284021 congenital muscular dystrophy, no mental retardation; 1y2m-sit; contractures knee; no intellectual disability; no seizures; no eye involvement; CK level 2104-4337 IU/L; MRI brain normal; EMG myogenic; IHC no DAG; ECG sinus arrhythmia congenital muscular dystrophy, no mental retardation - Familial, autosomal dominant 3y - 1d - - Johan den Dunnen 00390484
0000284022 congenital muscular dystrophy, mental retardation; 2y-walk; contractures knee; intellectual disability; seizures; no eye involvement; CK level 5270 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia limb-girdle muscular dystrophy - Familial, autosomal dominant 3y4m - 1d - - Johan den Dunnen 00390485
0000284023 congenital muscular dystrophy, no mental retardation; 1y-sit; contractures ankle; no intellectual disability; no seizures; no eye involvement; CK level 4706-7761 IU/L; MRI brain normal; EMG myogenic; IHC no DAG; UCG normal congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 6y7m - 1d - - Johan den Dunnen 00390486
0000284024 congenital muscular dystrophy, mental retardation; 1y-sit; contracture elbow, knee; intellectual disability; no seizures; no eye involvement; CK level 8080-9425 IU/L; MRI brain normal; EMG myogenic; EGC normal; UCG normal congenital muscular dystrophy/limb-girdle muscular dystrophy - Familial, autosomal dominant 3y5m - 1d - - Johan den Dunnen 00390487
0000284025 deceased; congenital muscular dystrophy, mental retardation; 1y6m-sit; no contractures; intellectual disability; no seizures; no eye involvement; CK level 9310 IU/L; MRI brain nonspecific white matter changes; EMG myogenic; IHC no DAG; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 6y4m - 1d - - Johan den Dunnen 00390488
0000284026 congenital muscular dystrophy, no mental retardation; 1y10m-walk, 3y1m-run; no contractures; no intellectual disability; no seizures; no eye involvement; CK level 15245 IU/L; MRI brain normal; muscle biopsy muscular dystrophy limb-girdle muscular dystrophy - Familial, autosomal dominant 3y7m - 4m - - Johan den Dunnen 00390489
0000284027 congenital muscular dystrophy, no mental retardation; 1y5m-sit; no contractures; no intellectual disability; no seizures; esotropia; CK level 2850 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; ECG right bundle branch block limb-girdle muscular dystrophy - Familial, autosomal dominant 3y3m - 1d - - Johan den Dunnen 00390490
0000284028 limb-girdle muscular dystrophy; 1y3m-walk, run, 13y-cannot run, 23y-walking supported; contractures ankle; no intellectual disability; seizures; CK level 3585-5531 IU/L; ECG-right bundle branch block; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 25y - 10y fall down frequently - Johan den Dunnen 00390491
0000284029 limb-girdle muscular dystrophy; 1y6m-walk, 2-3y-run, 10y-cannot run; contractures ankle; no intellectual disability; no seizures; CK level 12017 IU/L; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 14y - 9y3m weakness lower limbs, abnormal walking gait - Johan den Dunnen 00390492
0000284030 limb-girdle muscular dystrophy; 1y-walk, difficulty run and jump; no contractures; no intellectual disability; seizures; CK level 1200-7212 IU/L; EMG myogenic; ECG-normal; UCG-normal muscle-eye-brain disease - Familial, autosomal dominant 8y3m - 1y9m muscle weakness after infection - Johan den Dunnen 00390493
0000284031 limb-girdle muscular dystrophy; 10m-walk, 1y6m-run; no contractures; no intellectual disability; no seizures; CK level 894-2503 IU/L; EMG myogenic; ECG-normal; UCG-normal congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 10y5m - 1y7m hyperCKemia - Johan den Dunnen 00390494
0000284032 limb-girdle muscular dystrophy; normal motor ability; no contractures; no intellectual disability; no seizures; CK level 10213 IU/L congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 9y - 9y hyperCKemia - Johan den Dunnen 00390495
0000284033 limb-girdle muscular dystrophy; normal milestones, 25y-walking supported; contractures ankle; no intellectual disability; no seizures; CK level 1799 IU/L; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 30y - 5y weakness lower limbs, abnormal walking gait - Johan den Dunnen 00390496
0000284034 limb-girdle muscular dystrophy; 1y6m-walk and run; no contractures; no intellectual disability; no seizures; CK level 3080-6203 IU/L; MRI brain nonspecific white matter changes; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 10y4m - 1y5m muscle weakness after infection - Johan den Dunnen 00390497
0000284035 limb-girdle muscular dystrophy; 1y-walk, 1y6m-run; no contractures; no intellectual disability; no seizures; CK level 1375-7992 IU/L; ECG-sinus arrhythmia; UCG mitral and tricuspid regurgitation (mild) congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 10y10m - 5y hyperCKemia - Johan den Dunnen 00390498
0000284036 limb-girdle muscular dystrophy, mental retardation; 1y6m-walk; no contractures; intellectual disability; no seizures; CK level 1935-2287 IU/L; EMG myogenic; UCG-normal limb-girdle muscular dystrophy, mental retardation - Familial, autosomal dominant 2y5m - 9m hyperCKemia - Johan den Dunnen 00390499
0000284037 limb-girdle muscular dystrophy; 6m-sit, 2y-walk, run; no contractures; autistic syndrome; no seizures; CK level 7027-11681 IU/L; ECG-normal; UCG-normal limb-girdle muscular dystrophy, mental retardation - Familial, autosomal dominant 3y9m - 5m hyperCKemia - Johan den Dunnen 00390500
0000284038 limb-girdle muscular dystrophy; 1y4m-walk; no contractures; no intellectual disability; no seizures; CK level 1940-32000 IU/L; MRI brain enlargement subarachnoid space; EMG-myogenic, neurogenic; ECG-normal; UCG-normal limb-girdle muscular dystrophy, mental retardation - Familial, autosomal dominant 1y11m - 4m hyperCKemia - Johan den Dunnen 00390501
0000284039 limb-girdle muscular dystrophy; 1y-walk, run; no contractures; no intellectual disability; no seizures; CK level 901-2671 IU/L; EMG-normal; ECG-normal; UCG-normal congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 4y8m - 3y11m hyperCKemia - Johan den Dunnen 00390502
0000284040 limb-girdle muscular dystrophy; 1y4m-walk, 3y-run; no contractures; no intellectual disability; no seizures; CK level 2919 IU/L; EMG myogenic; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 3y6m - 1y4m motor milestones delay - Johan den Dunnen 00390503
0000284041 limb-girdle muscular dystrophy; 11m-walk, run, 10y-cannot walk; contractures ankle, knee; no intellectual disability; no seizures; CK level 1385-8837 IU/L; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 16y7m - 8y weakness lower limbs, abnormal walking gait - Johan den Dunnen 00390504
0000284042 limb-girdle muscular dystrophy; 1y1m-walk, 6y-no walking; contractures ankle; no intellectual disability; no seizures; CK level 5904-13890 IU/L; EMG myogenic; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 12y4m - 5y abnormal walking gait - Johan den Dunnen 00390505
0000284043 limb-girdle muscular dystrophy; 1y4m-walk, 2y-run; no contractures; no intellectual disability; no seizures; CK level 1833-13862 IU/L; MRI brain normal; EMG-normal; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 4y4m - 1y5m obvious muscle weakness after infection - Johan den Dunnen 00390506
0000284044 limb-girdle muscular dystrophy; 1y2m-walk; no contractures; no intellectual disability; no seizures; CK level 1047-14210 IU/L; EMG myogenic; ECG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 6y5m - 5y7m hyperCKemia - Johan den Dunnen 00390507
0000284045 limb-girdle muscular dystrophy; 1y1m-walk, 2y-run; lordosis; no intellectual disability; seizures; CK level 7000-20000 IU/L; MRI brain normal; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 11y1m - 1y3m hyperCKemia - Johan den Dunnen 00390508
0000284046 limb-girdle muscular dystrophy; 1y-walk, 1y6m-run, 8y-cannot run; scoliosis; no intellectual disability; no seizures; CK level 17398 IU/L; EMG myogenic; muscle biopsy muscular dystrophy; ECG-normal; UCG-normal limb-girdle muscular dystrophy - Familial, autosomal dominant 16y1m - 1y2m hyperCKemia - Johan den Dunnen 00390509
0000284047 limb-girdle muscular dystrophy; normal motor ability; contractures ankle; no intellectual disability; no seizures; CK level 1451 IU/L; MRI brain normal; EMG myogenic; UCG aortic and tricuspid regurgitation (mild) limb-girdle muscular dystrophy - Familial, autosomal dominant 42y - 17y abnormal walking gait - Johan den Dunnen 00390510
0000284048 - Fukuyama congenital muscular dystrophy - Familial, autosomal dominant 9y - - - - Johan den Dunnen 00390511
0000284049 - Fukuyama congenital muscular dystrophy - Familial, autosomal dominant 20y - - - - Johan den Dunnen 00390512
0000284050 - Fukuyama congenital muscular dystrophy - Familial, autosomal dominant 9y - - - - Johan den Dunnen 00390513
0000284051 - limb-girdle muscular dystrophy - Familial, autosomal dominant 43y - - - - Johan den Dunnen 00390514
0000284052 - limb-girdle muscular dystrophy, mental retardation - Familial, autosomal dominant 37y - - - - Johan den Dunnen 00390515
0000284053 - congenital muscular dystrophy - Familial, autosomal dominant 22y - - - - Johan den Dunnen 00390516
0000284054 - limb-girdle muscular dystrophy - Familial, autosomal dominant 24y - - - - Johan den Dunnen 00390517
0000284055 - limb-girdle muscular dystrophy - Familial, autosomal dominant 40y - - - - Johan den Dunnen 00390518
0000284056 - limb-girdle muscular dystrophy - Familial, autosomal dominant 37y - - - - Johan den Dunnen 00390519
0000284057 - limb-girdle muscular dystrophy - Familial, autosomal dominant 14y - - - - Johan den Dunnen 00390520
0000284058 - muscle-eye-brain disease - Familial, autosomal dominant 52y - - - - Johan den Dunnen 00390521
0000284059 - muscle-eye-brain disease - Familial, autosomal dominant 15y1m - - - - Johan den Dunnen 00390522
0000284060 - muscle-eye-brain disease - Familial, autosomal dominant 41y - - - - Johan den Dunnen 00390523
0000284061 - congenital muscular dystrophy/limb-girdle muscular dystrophy - Familial, autosomal dominant 29y - - - - Johan den Dunnen 00390524
0000284062 - limb-girdle muscular dystrophy phenotype overlapping with congenital myasthenic syndrom - Familial, autosomal dominant 18y - - - - Johan den Dunnen 00390525
0000284063 - limb-girdle muscular dystrophy phenotype overlapping with congenital myasthenic syndrom - Familial, autosomal dominant 21y - - - - Johan den Dunnen 00390526
0000284064 - limb-girdle muscular dystrophy - Familial, autosomal dominant 18y - - - - Johan den Dunnen 00390527
0000284065 - limb-girdle muscular dystrophy phenotype overlapping with congenital myasthenic syndrom - Familial, autosomal dominant 3y1m - - - - Johan den Dunnen 00390528
0000284066 - limb-girdle muscular dystrophy - Familial, autosomal dominant 32y - - - - Johan den Dunnen 00390529
0000284067 - limb-girdle muscular dystrophy phenotype overlapping with congenital myasthenic syndrom - Familial, autosomal dominant 7y7m - - - - Johan den Dunnen 00390530
0000284068 - limb-girdle muscular dystrophy phenotype overlapping with congenital myasthenic syndrom - Familial, autosomal dominant 19y - - - - Johan den Dunnen 00390531
0000284069 - congenital muscular dystrophy, no mental retardation - Familial, autosomal dominant 21y - - - - Johan den Dunnen 00390532
0000284070 - limb-girdle muscular dystrophy - Familial, autosomal dominant 28y - - - - Johan den Dunnen 00390533
0000284071 - limb-girdle muscular dystrophy - Familial, autosomal dominant 11y11m - - - - Johan den Dunnen 00390534
0000284072 - limb-girdle muscular dystrophy, mental retardation - Familial, autosomal dominant 29y - - - - Johan den Dunnen 00390535
0000284073 - limb-girdle muscular dystrophy - Familial, autosomal dominant 11y10m - - - - Johan den Dunnen 00390536
0000284074 - limb-girdle muscular dystrophy - Familial, autosomal dominant 10y5m - - - - Johan den Dunnen 00390537
0000284075 - limb-girdle muscular dystrophy - Familial, autosomal dominant 37y - - - - Johan den Dunnen 00390538
0000284076 - congenital muscular dystrophy, mental retardation - Familial, autosomal dominant 23y - - - - Johan den Dunnen 00390539
0000284077 - limb-girdle muscular dystrophy - Familial, autosomal dominant 5y3m - - - - Johan den Dunnen 00390540
0000284078 - limb-girdle muscular dystrophy - Familial, autosomal dominant 36y - - - - Johan den Dunnen 00390541
0000284079 - limb-girdle muscular dystrophy - Familial, autosomal dominant 3y8m - - - - Johan den Dunnen 00390542
0000284080 - limb-girdle muscular dystrophy - Familial, autosomal dominant 8y - - - - Johan den Dunnen 00390543
0000284081 - limb-girdle muscular dystrophy - Familial, autosomal dominant 8y - - - - Johan den Dunnen 00390544
0000284082 - limb-girdle muscular dystrophy - Familial, autosomal dominant 12y7m - - - - Johan den Dunnen 00390545
0000284083 deceased; muscle-eye-brain disease; 8m-lift head; contractures elbow, knee; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; VEP ab waves disappear in both eyes; CK level 1022-3893 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 5y7m - 1d - - Johan den Dunnen 00390546
0000284084 muscle-eye-brain disease; 5y-turn over; contractures ankle, knee; intellectual disability; no seizures; Microphthalmia, microcornea, right cataract, left severe myopia, left optic nerve atrophy, and left retinal dysplasia; CK level 1514 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, eptum pellucidum limb-girdle muscular dystrophy - Familial, autosomal dominant 12y5m - 3m - - Johan den Dunnen 00390547
0000284085 muscle-eye-brain disease; 6y2m-walk; contractures ankle; intellectual disability; no seizures; esotropia, optic nerve atrophy; CK level 345-1113 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 7y8m - 1d - - Johan den Dunnen 00390548
0000284086 muscle-eye-brain disease; 5y-walk; no contractures; intellectual disability; seizures; Optic nerve atrophy; CK level 867 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 5y5m - 1d - - Johan den Dunnen 00390549
0000284087 muscle-eye-brain disease; 3y6m-walk supported; no contractures; intellectual disability; no seizures; Optic nerve atrophy, retinal atrophy, macular dysplasia; CK level 569 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal congenital muscular dystrophy, no mental retardation - Familial, autosomal dominant 4y3m - 3m - - Johan den Dunnen 00390550
0000284088 muscle-eye-brain disease; 3y6m-sit; contractures ankle; intellectual disability; seizures; Nystagmus, VEP amplitude decreased with prolonged latency; CK level 5190 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 4y2m - <0d - - Johan den Dunnen 00390551
0000284089 muscle-eye-brain disease; 1y6m-walk; no contractures; intellectual disability; seizures; esotropia, myopia, nystagmus; CK level 948-1973 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia limb-girdle muscular dystrophy - Familial, autosomal dominant 12y2m - 5m - - Johan den Dunnen 00390552
0000284090 muscle-eye-brain disease; 3y-walk and run; contractures ankle; intellectual disability; no seizures; macular dysplasia; CK level 1542 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; UGC tricuspid regurgitation limb-girdle muscular dystrophy - Familial, autosomal dominant 4y7m - 6m - - Johan den Dunnen 00390553
0000284091 muscle-eye-brain disease; 1y6m-sit; contractures ankle, knee; intellectual disability; no seizures; esotropia; CK level 2375-6333 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia, hydrocephalus; EMG myogenic; IHC reduced DAG; EGC normal; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 2y5m - <0d - - Johan den Dunnen 00390554
0000284092 muscle-eye-brain disease; 2y1m-walk, 3y6m-run; contractures knee; intellectual disability; seizures; esotropia; CK level 1317-2888 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia; EGC normal; UCG normal limb-girdle muscular dystrophy - Familial, autosomal dominant 3y10m - 3m - - Johan den Dunnen 00390555
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