Klinische FragestellungMorbus Sandhoff, Differentialdiagnose

NGS +

• Alias: GM2-Gangliosidose (HEXA, HEXB, GM2A)
• Alias: Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
• Allelic: Androgen insensitivity (AR)
• Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
• Allelic: Essential tremor, hereditary, 4 (FUS)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: Macular dystrophy with central cone involvement (MFSD8)
• Allelic: Migraine, familial hemiplegic, 1 (CACNA1A)
• Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
• Alexander disease (GFAP)
• Amyotrophic lateral sclerosis 1 (SOD1)
• Amyotrophic lateral sclerosis 10, with/-out FTD (TARDBP)
• Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
• Amyotrophic lateral sclerosis 8 (VAPB)
• Canavan disease (ASPA)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 13, Kufs type (CTSF)
• Ceroid lipofuscinosis, neuronal, 2 (TPP1)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6 (CLN6)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
• Charcot-Marie-Tooth disease, type 1A (PMP22)
• Charcot-Marie-Tooth disease, type 1E (PMP22)
• Dejerine-Sottas disease (PMP22)
• Developmental and epileptic encephalopathy 42 (CACNA1A)
• Episodic ataxia, type 2 (CACNA1A)
• Friedreich ataxia (FXN)
• Friedreich ataxia with retained reflexes (FXN)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (C9orf72)
• Frontotemporal lobar degeneration, TARDBP-related (TARDBP)
• GM1-gangliosidosis, type I, II + III (GLB1)
• GM2-gangliosidosis, AB variant (GM2A)
• Galactosialidosis (CTSA)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, type I, II, III + IIIC
• Hereditary motor + sensory neuropathy, Okinawa type (TFG)
• Krabbe disease (GALC)
• Machado-Joseph disease (ATXN3)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Mucolipidosis II + III alpha/beta (GNPTAB)
• Mucopolysaccharidosis type IVB [Morquio] (GLB1)
• Myopathy, isolated mitochondrial, AD (CHCHD10)
• Neuropathy, inflammatory demyelinating (PMP22)
• Neuropathy, recurrent, with pressure palsies (PMP22)
• Niemann-Pick disease, type A + B (SMPD1)
• Roussy-Levy syndrome (PMP22)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Sialidosis, type I + II (NEU1)
• Spastic paraplegia 57, AR (TFG)
• Spastic tetraplegia + axial hypotonia, progressive (SOD1)
• Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
• Spinal muscular atrophy, Jokela type (CHCHD10)
• Spinal muscular atrophy, late-onset, Finkel type (VAPB)
• Spinal muscular atrophy-1, -2, -3 + -4 (SMN1)
• Spinocerebellar ataxia 2 (ATXN2)
• Spinocerebellar ataxia 6 (CACNA1A)
• Spinocerebellar ataxia, AR 7 (TPP1)