ErkrankungMyopathie, tubulär aggregiert; Differentialdiagnose

NGS +

Kongenitale Myopathie mit tubulären Aggregaten im Subsarkolem; langsam fortschreitende proximale Muskelschwäche vorwiegend der unteren Extremitäten, periodische Lähmungen, Muskelkrämpfe nach Belastung, Muskelschmerzen; Ophthalmoplegie/Pupillen-Auffälligkeiten; Intensität der Symptome variabel

• Alias: Myopathy, tubular aggregate
• Alias: Tubular aggregate myopathy [TAM]
• Allelic: Congenital disorder of glycosylation, type Ii (ALG2)
• Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
• Allelic: Immunodeficiency 10 (STIM1)
• Allelic: Immunodeficiency 9 (ORAI1)
• Allelic: Intellectual developmental disorder, epilepsy, behav. abnorm., coarse facies (ALG14)
• Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
• Allelic: Myopathy, epilepsy + progressive cerebral atrophy (ALG14)
• Allelic: Stormorken syndrome (STIM1)
• Muscular dystrophy-dystroglycanopathy, cong. with brain and eye anomalies, type A, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
• Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
• Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
• Myasthenic syndrome, congenital, 14, with tubular aggregates (ALG2)
• Myasthenic syndrome, congenital, 15, [with]out tubular aggregates (ALG14)
• Myasthenic syndrome, congenital, 22 (PREPL)
• Myopathy, tubular aggregate, 1 (STIM1)
• Myopathy, tubular aggregate, 2 (ORAI1)