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Klinische FragestellungMyopathie, distal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Myopathie, distal, mit 12 Leitlinien-kuratierten "core candidate"-Genen" bzw. zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP1010
Anzahl Gene
25 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
34,1 kb (Core-/Core-canditate-Gene)
52,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

{Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ANO52742NM_213599.3AR
DYSF6243NM_003494.4AR
FLNC8178NM_001458.5AD
GNE2262NM_001128227.3AR
KLHL91854NM_018847.4AD
LDB3852NM_001080116.1AD
MATR32544NM_199189.3AD
MYH75808NM_000257.4AD
TIA11161NM_022173.4AD, AR
VCP2421NM_007126.5AD
ACTA11134NM_001100.4AD, AR
ADSS11374NM_152328.5 AR
AMPD12343NM_000036.3AR
BAG31728NM_004281.4AD
CAV3456NM_033337.3AD, AR
CRYAB528NM_001885.3AD, AR
DES1413NM_001927.4AD, AR
DNAJB2834NM_001039550.2AR
DNAJB6981NM_058246.4AD
DNM22613NM_001005360.3AD
FHL1843NM_001449.5XL
HSPB1618NM_001540.5AD
HSPB8591NM_014365.3AD
MYOT1497NM_006790.3AD
SQSTM11323NM_003900.5AD

Infos zur Erkrankung

Klinischer Kommentar

Muskelerkrankungen, mit klinischem Muster einer vorherrschenden Schwäche + beginnender Atrophie in den Füßen und/oder Händen

 

Synonyme
  • Alias: Distal muscular dystrophy
  • Alias: Distal myopathy
  • Allelic: Amyotrophic lateral sclerosis 14, with/-out frontotemporal dementia (VCP)
  • Allelic: Androgen insensitivity (AR)
  • Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
  • Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
  • Allelic: Cardiomyopathy, dilated, 1S (MYH7)
  • Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Allelic: Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
  • Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
  • Allelic: Hypospadias 1, XL (AR)
  • Allelic: King-Denborough syndrome (RYR1)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
  • Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
  • Amyotrophic lateral sclerosis 21 (MATR3)
  • Bethlem myopathy 2 (COL12A1)
  • CAP myopathy 1 (TPM3)
  • CAP myopathy 2 (TPM2)
  • Central core disease (RYR1)
  • Centronuclear myopathy 1 (DNM2)
  • Deafness, XL 4 (SMPX)
  • Facioscapulohumeral muscular dystrophy 3, digenic (LRIF1)
  • Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
  • Laing distal myopathy (MYH7)
  • Minicore myopathy with external ophthalmoplegia (RYR1)
  • Miyoshi muscular dystrophy 1 (DYSF)
  • Miyoshi muscular dystrophy 3 (ANO5)
  • Muscular dystrophy, AR, with rigid spine + distal joint contractures (TOR1AIP1)
  • Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
  • Muscular dystrophy, limb-girdle, AR (TTN)
  • Muscular dystrophy, limb-girdle, AR 2 (DYSF)
  • Muscular dystrophy, limb-girdle, AR 7 (TCAP)
  • Myopathy, XL, with postural muscle atrophy (FHL1)
  • Myopathy, actin, congenital, with cores (ACTA1)
  • Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
  • Myopathy, congenital, with fiber-type disproportion (TPM3)
  • Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
  • Myopathy, distal, 4 (FLNC)
  • Myopathy, distal, 5 (ADSS1 syn. ADSSL1)
  • Myopathy, distal, 6, adult onset (ACTN2)
  • Myopathy, distal, 7, adult-onset, XL (SMPX)
  • Myopathy, distal, Tateyama type (CAV3)
  • Myopathy, distal, with anterior tibial onset (DYSF)
  • Myopathy, distal, with rimmed vacuoles (SQSTM1)
  • Myopathy, myofibrillar, 1 (DES)
  • Myopathy, myofibrillar, 2 (CRYAB)
  • Myopathy, myofibrillar, 3 (MYOT)
  • Myopathy, myofibrillar, 4 (LDB3)
  • Myopathy, myofibrillar, 5 (FLNC)
  • Myopathy, myofibrillar, 6 (BAG3)
  • Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Myopathy, myosin storage, AD or AR (MYH7)
  • Myopathy, scapulohumeroperoneal (ACTA1)
  • Myopathy, spheroid body (MYOT)
  • Nemaline myopathy 1, AD or AR (TPM3)
  • Nemaline myopathy 10 (LMOD3)
  • Nemaline myopathy 11, AR (MYPN)
  • Nemaline myopathy 2, AR (NEB)
  • Nemaline myopathy 3, AD or AR (ACTA1)
  • Nemaline myopathy 4, AD (TPM2)
  • Nemaline myopathy 5, Amish type (TNNT1)
  • Nemaline myopathy 6, AD (KBTBD13)
  • Nemaline myopathy 7, AR (CFL2)
  • Nemaline myopathy 8, AR (KLHL40)
  • Nemaline myopathy 9 (KLHL41)
  • Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Neuronopathy, distal hereditary motor, type IIA (HSPB8)
  • Neuronopathy, distal hereditary motor, type IIB (HSPB1)
  • Nonaka myopathy (GNE)
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss (MYH14)
  • Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
  • Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
  • Rippling muscle disease 2 (CAV3)
  • Salih myopathy (TTN)
  • Scapuloperoneal myopathy, XLD (FHL1)
  • Scapuloperoneal syndrome, myopathic type (MYH7)
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
  • Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
  • Tibial muscular dystrophy, tardive (TTN)
  • Ullrich congenital muscular dystrophy 2 (COL12A1)
  • Welander distal myopathy (TIA1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G72.-

Bioinformatik und klinische Interpretation

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