Huntington's disease
Huntington's disease Causes
Huntington's disease is caused by a trinucleotide repeat expansion in the gene coding for Huntingtin protein, which is referred to as "Htt". Huntington's disease is one of many polyglutamine diseases. This expansion give out an altered form of the Htt protein, called mutant Huntingtin (mHtt), resulting in neuronal cell death in select areas of the brain.
Huntington's disease Definition
Huntington's disease (HD), known as Huntington's chorea and chorea maior, is a rare genetic neurological disorder inherited by an estimated one person per 10,000 people of Western European descent, varying geographically, down to one per 1,000,000 of Asian and African descent.
Huntington's disease Diagnosis
To determine whether initial symptoms are evident, a physical and/or psychological examination is needed. The uncontrollable movements are often the symptoms which cause initial alarm and lead to diagnosis; however, the disease may start with cognitive or emotional symptoms, which are not always recognized.
Huntington's disease Symptoms and Signs
Most people with Huntington's Disease eventually show jerky, random, and uncontrollable movements called chorea, although some exhibit very slow movement and stiffness (bradykinesia, dystonia). These abnormal movements are initially exhibited as general lack of coordination and an unsteady gait and slowly increase as the disease progresses; this eventually causes problems with loss of facial expression (called "masks in movement") or exaggerated facial gestures, inability to sit or stand stably, speech, chewing and swallowing (Dysphagia) which commonly causes weight loss.
Huntington's disease Treatment
There is no treatment to fully stop the progression of the disease, but symptoms can be reduced or alleviated through the use of medication and care methods. Huntington mice models exposed to better husbandry techniques, especially better access to food and water, lived dramatically longer than mice that were not well cared for.