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IllnessNeuropathy, distal hereditary motor / muscle atrophies, distal spinal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, distal hereditary motor / muscle atrophies, distal spinal, containing 30 guideline-curated genes and altogether 35 curated genes according to the clinical symptoms

ID
DP6699
Number of genes
30 Accredited laboratory test
Examined sequence length
52,2 kb (Core-/Core-canditate-Genes)
62,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ASAH11188NM_177924.5AR
ATP7A4503NM_000052.7XLR
BICD22568NM_001003800.2AD
BSCL21197NM_032667.6AD
CHCHD10429NM_213720.3AD
DNAJB2834NM_001039550.2AR
DYNC1H113941NM_001376.5AD
EXOSC3828NM_016042.4AR
EXOSC8831NM_181503.3AR
FBXO382832NM_001271723.2AD
GARS12220NM_002047.4AD
HSPB8591NM_014365.3AD
IGHMBP22982NM_002180.3AR
PLEKHG53189NM_020631.6AR
REEP1606NM_022912.3AD
SLC5A11995NM_000343.4AR
SMN1885NM_000344.4AR
TFG1203NM_006070.6AR, AD
TRPV42616NM_021625.5AD
TSEN541581NM_207346.3AR
UBA13177NM_003334.4XLR
VAPB732NM_004738.5AD
VRK11191NM_003384.3AR
AARS12927NM_001605.3AD
DCTN13837NM_004082.5AD
HARS11530NM_002109.6AD
HINT1381NM_005340.7AR
HSPB1618NM_001540.5AD
HSPB3453NM_006308.3AD
PMP22483NM_000304.4AD

Informations about the disease

Clinical Comment

Distal hereditary motor neuropathies (dHMN) and distal spinal muscular atrophies (DSMA) are nowadays collectively referred to as Charcot-Marie-Tooth (CMT) hereditary neuropathies. In dHMN, motor symptoms are exclusively present, manifesting in the distal muscle groups. Muscle atrophy and paresis in the lower extremities are quite prominent. However, there are also forms that preferentially affect the arm or hand muscles. Clinically and genetically, there are transitions to DSMA, which by definition show neither pathological abnormalities in the peripheral nervous system nor neurogenic remodeling processes in the affected muscles on electrophysiological or histological examination. BSCL2 mutations account for a high proportion of autosomal dominant inherited forms in dHMN/DSMA and cause a wide clinical spectrum from CMT2 to dHMN to spastic paraplegia type 17. HSPB1 and HSPB8 mutations are found in 5-8% of dHMN cases. Overall, the genetic yield in dHMN/DSMA is ~40%. Therefore, a negative molecular genetic finding by no means excludes the clinical diagnosis.

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

https://www.awmf.org/uploads/tx_szleitlinien/022-027l_S2k_Differentialdiagnose-erworbene-hereditaere-Neuropathie-Kinder-Jugendliche_2021-07_1.pdf

 

Synonyms
  • Alias: Distal hereditary motor neuropathy, DHMN
  • Alias: Distal spinal muscular atrophy, DSMA
  • Alias: Polyneuropathie
  • Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
  • Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Allelic: Amyotrophic lateral sclerosis 8 (VAPB)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
  • Allelic: Deafness, AD 4A (MYH14)
  • Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
  • Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
  • Allelic: Spastic paraplegia 31, AD (REEP1)
  • Allelic: Usher syndrome type 3B (HARS1)
  • Charcot-Marie-Tooth disease, RI C (PLEKHG5)
  • 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 2O (DYNC1H1)
  • Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
  • Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
  • Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Charcot-Marie-Tooth disease, type 2D (GARS1)
  • Dejerine-Sottas disease (PMP22)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Glucose/galactose malabsorption (SLC5A1)
  • Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Neuromyotonia + axonal neuropathy, AR (HINT1)
  • 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 (WARS)
  • 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 (DCNT1)
  • Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Neuropathy, distal hereditary motor, type VA (BSCL2)
  • Neuropathy, inflammatory demyelinating (PMP22)
  • Neuropathy, recurrent, with pressure palsies (PMP22)
  • Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
  • Pontocerebellar hypoplasia, type 1A (VRK1)
  • Pontocerebellar hypoplasia, type 1B (EXOSC3)
  • Pontocerebellar hypoplasia, type 1C (EXOSC8)
  • Pontocerebellar hypoplasia, type 2A, 4, 5 (TSEN54)
  • Roussy-Levy syndrome (PMP22)
  • Spastic paraplegia 57, AR (TFG)
  • 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 + 2B, AD (BICD2)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.