ErkrankungNeuropathie, hereditäre motorische, Kinder/Jugendliche; Differentialdiagnose

NP6698_DH

• Alias: Distal hereditary motor neuropathy, DHMN
• Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
• Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
• Allelic: Deafness, AD 4A (MYH14)
• Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
• Allelic: Spastic paraplegia 31, AD (REEP1)
• Allelic: Usher syndrome type 3B (HARS1)
• Charcot-Marie-Tooth disease, RI C (PLEKHG5)
• Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
• Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
• Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
• Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
• Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
• Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
• Charcot-Marie-Tooth disease, type 2D (GARS1)
• Developmental + epileptic encephalopathy 29 (AARS1)
• Hereditary motor and sensory neuropathy, type IIc (TRPV4)
• Neuromyotonia + axonal neuropathy, AR (HINT1)
• Neuronopathy, distal hereditary motor, type IIA (HSPB8)
• Neuronopathy, distal hereditary motor, type IIB (HSPB1)
• Neuronopathy, distal hereditary motor, type IIC (HSPB3)
• Neuronopathy, distal hereditary motor, type IID (FBXO38)
• Neuronopathy, distal hereditary motor, type IX (WARS1)
• Neuronopathy, distal hereditary motor, type VA (GARS1)
• Neuronopathy, distal hereditary motor, type VB (REEP1)
• Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
• Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
• Neuronopathy, distal hereditary motor, type VIIB (DCNT1)
• Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Neuropathy, distal hereditary motor, type VA (BSCL2)
• Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
• Spinal muscular atrophy, Jokela type (CHCHD10)
• Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
• Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
• Spinal muscular atrophy, distal, XL 3 (ATP7A)
• Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
• Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)