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IllnessNeuropathy, CMT/HMSN, infantile / juvenile; autosomal dominant / X-linked; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, CMT/HMSN, infantile / juvenile; autosomal dominant / X-linked, comprising altogether 45 guideline-curated genes according to the clinical signs

ID
NP8877
Number of genes
34 Accredited laboratory test
Examined sequence length
50,5 kb (Core-/Core-canditate-Genes)
69,4 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
AARS12927NM_001605.3AD
AIFM11842NM_004208.4XLR
DHTKD12760NM_018706.7AD
DNM22613NM_001005360.3AD
DYNC1H113941NM_001376.5AD
EGR21431NM_000399.5AD
GARS12220NM_002047.4AD
GDAP11077NM_018972.4AD, AR
GJB1852NM_000166.6XL
GNB41023NM_021629.4AD
HSPB1618NM_001540.5AD
HSPB8591NM_014365.3AD
INF23750NM_022489.4AD
LITAF486NM_004862.4AD
LRSAM12172NM_138361.5AD, AR
MFN22274NM_014874.4AD, AR
MPZ747NM_000530.8AD
NEFL1633NM_006158.5AD, AR
PDK31248NM_001142386.3XL
PMP22483NM_000304.4AD
PRPS1957NM_002764.4XL
RAB7A624NM_004637.6AD
TRPV42616NM_021625.5AD
YARS11587NM_003680.3AD
ATP7A4503NM_000052.7XLR
BSCL21197NM_032667.6AD
CHCHD10429NM_213720.3AD
DCAF81794NM_015726.4AD
DGAT21207NM_001253891.2AD
KIF5A3099NM_004984.4AD
MARS12703NM_004990.3AD
NEFH3063NM_021076.4AD
PMP2403NM_002677.5AD
TTR444NM_000371.4AD

Informations about the disease

Clinical Comment

Classic hereditary motor sensory neuropathy (HMSN/CMT) consists of symmetrical weakness (later atrophy) of the distal leg muscles and weakening of the muscle reflexes. Distal sensory disorders are usually not very pronounced, and the disease has a variable course. Foot malpositions and weakness of dorsiflexion often occur in the first two decades, rarely calf pain, and in the course of the disease a neurogenic hollow foot may also develop. Later, the hand and thigh muscles are also affected. The most common form is demyelinating (HMSNI/CMT1), which is indicated electrophysiologically by the reduced motor nerve conduction speed (<38 m/sec). The axonal variant of the HMSN (HMSNII/CMT2) is clinically hardly distinguishable from the demyelinating form, transitions and mixed forms complicate the classification. The same applies to the X-linked dominant variant (CMTX). Additional symptoms such as hearing disorders, optic atrophy, strikingly rapid progression, scoliosis, renal insufficiency, mental retardation or dysmorphia are found in rare forms of CMT. Although more and more genes are being defined for even the rarest forms of CMT, an inconspicuous genetic finding does not rule out a clinical suspect diagnosis.

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

 

Synonyms
  • 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: Occipital horn syndrome (ATP7A)
  • 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, distal, XL 3 (ATP7A)
  • 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 2HH (JAG1)
  • 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)
  • Menkes disease (ATP7A)
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined