Rare Pulmonology News

Disease Profile

DYT-TUBB4A

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

G24.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

DYT4; Dystonia musculorum deformans 4; Hereditary whispering dysphonia;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 98805

Definition
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

Epidemiology
So far, the disease has been reported in one large Australian family.

Clinical description
The age of onset varies from 13 to 37 years. Some patients develop generalized dystonia and psychiatric symptoms.

Etiology
The locus for DYT4 remains unknown.

Genetic counseling
The disease is transmitted in an autosomal dominant manner.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Generalized dystonia
0007325
Laryngeal dystonia
0012049
30%-79% of people have these symptoms
Eunuchoid habitus
0003782
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Movement abnormality of the tongue
0000182
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ more ]

0000194
Sunken cheeks
Depressed cheeks
Hollow cheeks

[ more ]

0009938
Torticollis
Wry neck
0000473
5%-29% of people have these symptoms
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid

[ more ]

0000643
Dementia
Dementia, progressive
Progressive dementia

[ more ]

0000726
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Kyphoscoliosis
0002751
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Upper limb postural tremor
0007351
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Dysphonia
Inability to produce voice sounds
0001618
Gait ataxia
Inability to coordinate movements when walking
0002066
Limb dystonia
0002451
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Slender build
Thin build
0001533
Torsion dystonia
0001304

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss DYT-TUBB4A. Click on the link to view a sample search on this topic.