Ads
related to: huntington's disease genetic basis chart- Common Side Effects
Learn About The Side Effects Of HD
Chorea Medication On Patients.
- A Treatment Option
Learn About A Treatment
Option For HD Chorea.
- Getting A Prescription
Learn How To Get A Prescription
To Treat Your HD Chorea Symptoms.
- Find More Resources
Download Guides And Materials For
Patients And Caregivers.
- Appointment Prep Guide
View the Interactive Appointment
Preparation Guide Today.
- Understanding HD
Chorea Is The Most Visible Symptom
Of HD. Learn More About Symptoms.
- Common Side Effects
Search results
Results From The WOW.Com Content Network
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. [9] [1] A general lack of coordination and an unsteady gait often follow. [2]
This is the case for Huntington's disease, where the trinucleotide repeat encodes a long stretch of glutamine residues. When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found (ex. fragile X ) or many genes through a dominant negative effect (ex. myotonic dystrophy ).
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]
Genetic disorders can be caused by any or all known types of sequence variation. To molecularly characterize a new genetic disorder, it is necessary to establish a causal link between a particular genomic sequence variant and the clinical disease under investigation. Such studies constitute the realm of human molecular genetics.
Ads
related to: huntington's disease genetic basis chart