Juvenile Huntington Disease

Description

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

Clinical Features

Top most frequent phenotypes and symptoms related to Juvenile Huntington Disease

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development
  • Hypertension
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait disturbance

And another 63 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Juvenile Huntington Disease have a estimated incidence of 0.04 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Juvenile Huntington Disease Is also known as huntington chorea, jhd, juvenile huntington chorea.

Researches and researchers

Doctors, researchs, and experts related to Juvenile Huntington Disease extracted from public data.

Juvenile Huntington Disease Experts map



Current Researchs and researchers

  • SHEFFIELD — Dr Oliver W QUARRELL

    Clinical expert - Investigator of research project - Manager of registry

    • Institution/s:
      — Sheffield Children's NHS Foundation Trust, The Sheffield Children's Hospital
      — The Sheffield Children's Hospital
    • Research area/topic::

      JHD - Qualitative Study: JHD qualitative study of the experience of parent/guardian caregivers



Mendelian

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Juvenile Huntington Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HTC.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

HTT
Specificity
100 %
Genes
100 %
Huntington Disease Repeat Expansion Analysis.

By Baylor Miraca Genetics Laboratories (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington Disease Repeat Expansion Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

HTT
Specificity
100 %
Genes
100 %
Chorea Differential Evaluation.

By Athena Diagnostics Inc (United States).

ATN1, HTT
Specificity
50 %
Genes
100 %
Huntington's Disease DNA Test.

By Athena Diagnostics Inc (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington's Disease.

By Center for Human Genetics, Inc (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington Disease.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

HTT
Specificity
100 %
Genes
100 %
Huntington's Disease.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

HTT
Specificity
100 %
Genes
100 %

We have 60 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE NEMALINE MYOPATHY 1; NEM1 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A GENETIC TRANSIENT CONGENITAL HYPOTHYROIDISM CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES; CPRF CAUDAL REGRESSION SEQUENCE

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