Klinische FragestellungNeuronopathie/Muskelatrophie, distale hereditäre; Differentialdiagnose

NGS +

Heterogene Störungen durch Dysfunktion der Motoneuronen der unteren Extremitäten mit längenabhängiger motorischer Schwäche + Atrophie, die zunächst die intrinsische Fußmuskulatur + das Peronealkompartiment der Beine betreffen und häufig zu Fußdeformitäten, Pes cavus, planus, Zehenkrallen führen

https://n.neurology.org/content/neurology/early/2017/03/01/WNL.0000000000003772.full.pdf

• Alias: dHMN distal Hereditary MotoNeuropathy
• Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
• Allelic: Amyotrophic lateral sclerosis 8 (VAPB)
• Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
• Allelic: Androgen insensitivity (AR)
• Allelic: Androgen insensitivity, partial, +/- breast cancer (AR)
• Allelic: Boucher-Neuhauser syndrome (PNPLA6)
• Allelic: Developmental and epileptic encephalopathy 29 (AARS1)
• Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Allelic: Farber Lipogranulomatosis (ASAH1)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: Leukoencephalopathy, hereditary diffuse, with spheroids 2 (AARS1)
• Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Allelic: Muscular dystrophy, congenital, Davignon-Chauveau type (TRIP4)
• Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
• Allelic: Primary lateral sclerosis, juvenile (ALS2)
• Allelic: Trichothiodystrophy 8, nonphotosensitive (AARS1)
• Allelic: VEXAS syndrome, somatic (UBA1)
• Amyotrophic lateral sclerosis 2, juvenile (ALS2)
• Amyotrophic lateral sclerosis 5, juvenile (SPG11)
• Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
• Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
• 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 2Q (DHTKD1)
• Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
• Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
• Charcot-Marie-Tooth disease, type 2D (GARS1)
• Distal hereditary motor neuropathy
• Distal spinal muscular atrophy
• Fazio-Londe disease (SLC52A3)
• Hereditary motor + sensory neuropathy VIA (MFN2)
• Hereditary motor + sensory neuropathy, type IIc (TRPV4)
• Laurence-Moon syndrome (PNPLA6)
• Myasthenic syndrome, congenital, 7A, presynaptic, distal motor neuropathy, AD (SYT2)
• Myasthenic syndrome, congenital, 7B, presynaptic, AR (SYT2)
• 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 (DCTN1)
• Neuronopathy, distal hereditary motor, type VIII (TRPV4)
• Neuropathy, distal hereditary motor, type VA (BSCL2)
• Oliver-McFarlane syndrome (PNPLA6)
• Perry syndrome (DCTN1)
• Pontocerebellar hypoplasia type 1A (VRK1)
• Pontocerebellar hypoplasia, type 1B (EXOSC3)
• Pontocerebellar hypoplasia, type 1C (EXOSC8)
• SMA, distale Form
• Silver spastic paraplegia syndrome (BSCL2)
• Slowed nerve conduction velocity, AD (ARHGEF10)
• Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
• Spastic paralysis, infantile onset ascending (ALS2)
• Spastic paraplegia 11, AR (SPG11)
• Spastic paraplegia 31, AD (REEP1)
• Spastic paraplegia 39, AR (PNPLA6)
• Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
• Spinal and bulbar muscular atrophy of Kennedy (AR)
• Spinal muscular atrophy with congenital bone fractures 1 (TRIP4)
• Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• Spinal muscular atrophy, Jokela type (CHCHD10)
• Spinal muscular atrophy, XL 2, infantile (UBA1)
• Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
• Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
• Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
• Spinal muscular atrophy, distal, XL 3 (ATP7A)
• Spinal muscular atrophy, late-onset, Finkel type (VAPB)
• Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Spinal muscular atrophy-1, -2, -3, -4 (SMN1)