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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMyoclonus-Dystonia, differential diagnosis

Summary

Short information

A comprehensive differential diagnostic panel for Myoclonus dystonia containing 4 guideline-curated genes and altogether 19 genes covering all known genetically caused forms

ID
MP9112
Number of genes
16 Accredited laboratory test
Examined sequence length
3,0 kb (Core-/Core-canditate-Genes)
44,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
KCTD171645NM_024681.3AD
SGCE1314NM_003919.3AD
ADCY53786NM_183357.3AD
ATM9171NM_000051.4AR
ATN13573NM_001007026.2AD
ATP7B4398NM_000053.4AR
ATXN31086NM_004993.6AD
EPM2A996NM_005670.4AR
GCH1753NM_000161.3AD, AR
NHLRC11188NM_198586.3AR
NKX2-11206NM_001079668.3AR
PRKCG2094NM_002739.5AD
RELN10383NM_005045.4AR
TOR1A999NM_000113.3AD
TTPA837NM_000370.3AR
TUBB2B1338NM_178012.5AD

Informations about the disease

Clinical Comment

Myoclonus dystonia typically affects the neck, trunk and arms with rapid, involuntary muscle twitching. The first movement problems usually occur in childhood or early adolescence with the development of myoclonus. In most cases, movement problems remain stable throughout life. Dystonia often causes writer's cramps or torticollis. About half of these patients also develop unusual postures. In some adults, the myoclonus improves with alcohol consumption. Affected individuals often develop psychological abnormalities such as anxiety, panic attacks, depression and obsessive-compulsive disorder. Mutations in the SGCE gene cause up to half of the cases, and mutations in several other genes should be considered in the differential diagnosis. Mutations in all of the latter genes each cause only a small percentage of cases. Myoclonus dystonia caused by SGCE and KCTD17 mutations is inherited in an autosomal dominant manner. Autosomal dominant or recessive patterns, respectively, are observed with other mutated genes. Because the DNA test yield is not complete, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1414/

 

Synonyms
  • Alias: DYT11
  • Alias: Dystonia 11
  • Alias: Myoclonus-dystonia syndrome
  • Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Allelic: Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1)
  • Allelic: Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia-telangiectasia (ATM)
  • Chorea, hereditary benign (NKX2-1)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Dentatorubral-pallidoluysian atrophy (ATN1)
  • Dyskinesia with orofacial involvement, AD (ADCY5)
  • Dyskinesia with orofacial involvement, AR (ADCY5)
  • Dystonia 26, myoclonic (KCTD17)
  • Dystonia, DOPA-responsive (GCH1)
  • Dystonia-1, modifier of (TOR1A)
  • Dystonia-1, torsion (TOR1A)
  • Dystonia-11, myoclonic (SGCE)
  • Epilepsy, familial temporal lobe, 7 (RELN)
  • Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
  • Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
  • Epilepsy, progressive myoclonic 2B, Lafora (NHLRC1)
  • Global developm. delay, ID, Autism, Behavior, Dystonia, Ataxia, Chorea, Myoclonus [panelapp] (CAMK4)
  • Intellectual developmental disorder, AD 42 (GNB1)
  • Lissencephaly 2, Norman-Roberts type (RELN)
  • Machado-Joseph disease (ATXN3)
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (ADCY5)
  • Spinocerebellar ataxia 14 (PRKCG)
  • Wilson disease (ATP7B)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined