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ErkrankungNeuronopathie/Muskelatrophie, distale hereditäre; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuronopathie/ Muskelatrophie, distale hereditäre, mit 15 bzw. zusammen genommen 34 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP0450
Anzahl Gene
34 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,2 kb (Core-/Basis-Gene)
88,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
BICD22568AD
BSCL21197AD und/oder AR
CHCHD10429AD
DCTN13837AD und/oder AR und/oder Sus
DNAJB2834AR
GARS12220AD
HSPB1618AD
HSPB3453AD
HSPB8591AD
IGHMBP22982AR
REEP1606AD
SLC5A71743AD und/oder AR
UBA13177XLR
VAPB732AD
VRK11191AR
AARS12927AD und/oder AR
AR2763XLR und/oder SMu
ARHGEF104035AD
ASAH11188AR
ATP7A4503XLR
DHTKD12760AD
DYNC1H113941AD
EXOSC3828AR
FBXO382832AD
MFN22274AD und/oder AR und/oder Dig und/oder Sus
PLEKHG53189AR
SETX8034AD und/oder AR
SIGMAR1672AR
SLC52A31410AR
SMN1885AR
SPG117332AR
SYT21260AD
TRIP41759AR
TRPV42616AD

Infos zur Erkrankung

Klinischer Kommentar

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

 

Synonyme
  • Allelic: Amyotrophic lateral sclerosis 8 (VAPB)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCTN1)
  • Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Allelic: Farber Lipogranulomatosis (ASAH1)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • 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: 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 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)
  • 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)
  • 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)
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
  • Spastic paralysis, infantile onset ascending (ALS2)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 31, AD (REEP1)
  • Spinal + bulbar muscular atrophy of Kennedy (AR_CAG)
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder Sus
  • AR
  • XLR
  • XLR und/oder SMu
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G12.8

Bioinformatik und klinische Interpretation

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