©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungNeuropathie, CMT/HMSN, infantil/juvenil; autosomal dominant/X-gebunden; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditär, infantil/juvenil; autosomal dominant/X-gebunden, mit 24 Leitlinien-kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
NP8877
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
50,5 kb (Core-/Basis-Gene)
50,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AARS12927AD und/oder AR
AIFM11842XLR
DHTKD12760AD
DNM22613AD und/oder AR und/oder SMu
DYNC1H113941AD
EGR21431AD und/oder AR
GARS12220AD
GDAP11077AD und/oder AR und/oder Dig
GJB1852XLD
GNB41023AD
HSPB1618AD
HSPB8591AD
INF23750AD
LITAF486AD
LRSAM12172AD und/oder AR
MFN22274AD und/oder AR und/oder Dig und/oder Sus
MPZ747AD und/oder AR
NEFL1633AD und/oder AR
PDK31248XLD
PMP22483AD und/oder AR
PRPS1957XLR
RAB7A624AD
TRPV42616AD
YARS11587AD und/oder AR
PMP2403AD

Infos zur Erkrankung

Klinischer Kommentar

Die klassische hereditäre motorisch-sensorische Neuropathie (HMSN/CMT) besteht in symmetrischer Schwäche (später Atrophie) der distalen Beinmuskeln und Abschwächung der Muskeleigenreflexe. Distale Sensibilitätsstörungen sind meist wenig ausgeprägt, die Krankheit verläuft variabel. Oft treten in den ersten zwei Jahrzehnten Fußfehlstellungen und Fußheberschwäche auf, selten Schmerzen in den Waden, im Verlauf ggf. auch ein neurogener Hohlfuß. Später sind auch die Hand- und Oberschenkelmuskulatur betroffen. Am häufigsten liegt eine demyelinisierende Form (HMSNI/CMT1) vor, worauf elektrophysiologisch die reduzierte motorische Nervenleitgeschwindigkeit (<38 m/sec) hinweist. Die axonale Variante der HMSN (HMSNII/CMT2) ist klinisch von der demyelinisierenden kaum zu unterscheiden, Übergänge und Mischformen erschweren die Zuordnung. Ähnliches gilt auch für die X-chromosomal dominante Variante (CMTX). Zusätzliche Symptome wie Hörstörungen, Optikusatrophie, auffallend rasche Progredienz, Skoliose, Niereninsuffizienz, mentale Retardierung oder Dysmorphien finden sich bei seltenen CMT-Formen. Wiewohl immer mehr Gene auch für seltenste CMT-Formen definiert werden, schließt ein unauffälliger genetischer Befund die klinische Verdachtsdiagnose nicht sicher aus.

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK1358/

 

Synonyme
  • Alias: Charcot-Marie-Tooth [CMT] hereditary neuropathy
  • Alias: HMSN
  • Allelic: Amyloidosis, hereditary, transthyretin-related (TTR)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to (NEFH)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • Allelic: Arts syndrome (PRPS1)
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Centronuclear myopathy 1 (DNM2)
  • Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
  • Allelic: Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Allelic: Cutis laxa, AD 2 (FBLN5)
  • Allelic: Cutis laxa, AR, type IA (FBLN5)
  • Allelic: Deafness, XL 1 (PRPS1)
  • Allelic: Deafness, XL 5 (AIFM1)
  • Allelic: Dejerine-Sottas disease (MPZ, PMP22)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Allelic: Epileptic encephalopathy, early infantile, 29 (AARS1)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Allelic: Glomerulosclerosis, focal segmental, 5 (INF2)
  • Allelic: Gout, PRPS-related (PRPS1)
  • Allelic: Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
  • Allelic: Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Allelic: Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Allelic: Interstitial lung + liver disease (MARS1)
  • Allelic: Lethal congenital contracture syndrome 5 (DNM2)
  • Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Allelic: Macular degeneration, age-related, 3 (FBLN5)
  • Allelic: Mental retardation, AD 13 (DYNC1H1)
  • Allelic: Myoclonus, intractable, neonatal (KIF5A)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
  • Allelic: Neuronopathy, distal hereditary motor, type IIA (HSPB8)
  • Allelic: Neuronopathy, distal hereditary motor, type IIB (HSPB1)
  • Allelic: Neuronopathy, distal hereditary motor, type VA (GARS1)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Neuropathy, inflammatory demyelinating (PMP22)
  • Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
  • Allelic: Pheochromocytoma (KIF1B)
  • Allelic: Roussy-Levy syndrome (MPZ, PMP22)
  • Allelic: Silver spastic paraplegia syndrome (BSCL2)
  • Allelic: Spastic paraplegia 10, AD (KIF5A)
  • Allelic: Spastic paraplegia 57, AR (TFG)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Spinocerebellar ataxia 43 (MME)
  • Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
  • Allelic: Trichothiodystrophy 9, nonphotosensitive (MARS1)
  • Allelic: Usher syndrome type 3B (HARS1)
  • Charcot-Marie-Tooth disease, DI B (DNM2)
  • Charcot-Marie-Tooth disease, DI C (YARS)
  • Charcot-Marie-Tooth disease, DI D (MPZ)
  • Charcot-Marie-Tooth disease, DI E (INF2)
  • Charcot-Marie-Tooth disease, DI F (GNB4)
  • Charcot-Marie-Tooth disease, DI G (NEFL)
  • Charcot-Marie-Tooth disease, RI A (GDAP1)
  • Charcot-Marie-Tooth disease, XLD, 1 (GJB1)
  • Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
  • Charcot-Marie-Tooth disease, XLI [OMIM: CMTX1] (DRP2)
  • Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
  • Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2CC (NEFH)
  • Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
  • Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
  • Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
  • Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
  • Charcot-Marie-Tooth disease, axonal, type 2M (DNM2)
  • Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
  • Charcot-Marie-Tooth disease, axonal, type 2P (LRSAM1)
  • Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
  • Charcot-Marie-Tooth disease, axonal, type 2T (MME)
  • Charcot-Marie-Tooth disease, axonal, type 2U (MARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
  • Charcot-Marie-Tooth disease, demyelinating, type 1G (PMP2)
  • Charcot-Marie-Tooth disease, demyelinating, type 1H (FBLN5)
  • Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Charcot-Marie-Tooth disease, type 1B (MPZ)
  • Charcot-Marie-Tooth disease, type 1C (LITAF)
  • Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Charcot-Marie-Tooth disease, type 1F (NEFL)
  • Charcot-Marie-Tooth disease, type 2A1 (KIF1B)
  • Charcot-Marie-Tooth disease, type 2A1 [OMIM] (DGAT2)
  • Charcot-Marie-Tooth disease, type 2B (RAB7A)
  • Charcot-Marie-Tooth disease, type 2D (GARS1)
  • Charcot-Marie-Tooth disease, type 2E (NEFL)
  • Charcot-Marie-Tooth disease, type 2I (MPZ)
  • Charcot-Marie-Tooth disease, type 2J (MPZ)
  • Charcot-Marie-Tooth disease, type 2Y (VCP)
  • Charcot-Marie-Tooth disease, type 4A (GDAP1)
  • Cowchock syndrome (AIFM1)
  • Developmental delay, impaired growth, dysmorphic facies + axonal neuropathy (MORC2)
  • Giant axonal neuropathy 2, AD (DCAF8)
  • Hereditary motor + sensory neuropathy VIA (MFN2)
  • Hereditary motor + sensory neuropathy, IIc (TRPV4)
  • Hereditary motor and sensory neuropathy, Okinawa type (TFG)
  • Hereditary neuropathies [panelapp] (KIF5A, TTR, TUBB3)
  • Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
  • Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder SMu
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G60.0

Bioinformatik und klinische Interpretation

Kein Text hinterlegt