©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMyopathy, distal; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Myopathy, distal, comprising 12 guideline-curated core candidate genes and altogether 31 curated genes according to the clinical signs

Number of genes
25 Accredited laboratory test
Examined sequence length
34,1 kb (Core-/Core-canditate-Genes)
52,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TIA11161NM_022173.4AD, AR
ACTA11134NM_001100.4AD, AR
ADSS11374NM_152328.5 AR
CAV3456NM_033337.3AD, AR
CRYAB528NM_001885.3AD, AR
DES1413NM_001927.4AD, AR

Informations about the disease

Clinical Comment

Muscle diseases sharing the clinical pattern of predominant weakness + atrophy beginning in the feet and/or hands


  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined