Juvenile Huntington's Disease
editJuvenile Huntington’s Disease (HD) is an early onset form of HD that begins with an onset of symptoms in adolescences or early adulthood [1]. Juvenile HD is rare, accounting for 5-10% of all Huntington’s disease cases [1]. Most affected by juvenile HD, have an onset of symptoms before the age of 20 [1]. The signs and symptoms are the same as HD; uncontrolled movements, loss of intellectual ability, and emotional disturbances [1]. Juvenile HD progresses rapidly with symptoms more severe than with adult HD [2]. Life expectancy for those with juvenile HD is 10 to 15 years from onset of symptoms [1]. Juvenile HD is caused by the same mutation of the HTT gene and inheritance in the same autosomal dominant pattern as HD [1].
Signs and Symptoms
editSigns and symptoms of juvenile HD are the same as HD in adults; uncontrolled movements, loss of intellectual ability, emotional disturbances, personality changes, dystonia, tremors, myoclonus, ambulatory dysfunction, and dysphagia being the most common symptoms of HD [1]. Behavioral problems are commonly the first symptoms recognized in juvenile HD because they are unable to recognize and express the symptoms occurring and act out in response [2]. Symptoms of juvenile HD typically progress more rapidly than symptoms associated with adult HD [1].
Pathophysiology
editThe pathophysiology of juvenile HD is exactly the same as adult HD including autosomal dominant inheritance pattern and mutation of HTT gene. Juvenile HD, just like adult HD, is a progressive inherited disease caused by a mutation of the HTT gene [3]. This mutation leads to the breakdown of cells in certain areas of the brain, particularly the frontal lobe which controls behavior and cognition [3]. As the mutated HTT gene is passed from each generation, the size of the HTT mutation increases, which leads to an earlier onset [1]. While those with juvenile HD typically inherit large mutation sizes from their father, occasionally they can inherit large mutation sizes from their mothers [1].
Diagnosis
editSimilar to adult HD, diagnoses is made by evaluation of symptoms, family history, and genetic testing [1]. Majority of those affected with juvenile HD, have several symptoms prior to diagnoses [2].
Treatment
editThere is no cure for juvenile HD. There is no way to slow the progression of juvenile HD. Just as with adult HD, treatment is aimed at alleviating symptoms and increasing quality of life [1]. Medications are used to help with muscular symptoms and behavioral symptoms [1]. Currently, there are no medications to help improve cognition [1]. Physical therapy is often used to help ease muscular symptoms [1].
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- ^ a b c d e f g h i j k l m n o "Juvenile Huntington Disease", SpringerReference, Springer-Verlag, retrieved 2020-03-06
- ^ a b c Fusilli, Caterina; Migliore, Simone; Mazza, Tommaso; Consoli, Federica; De Luca, Alessandro; Barbagallo, Gaetano; Ciammola, Andrea; Gatto, Emilia Mabel; Cesarini, Martin; Etcheverry, Jose Luis; Parisi, Virginia (2018-11). "Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis". The Lancet Neurology. 17 (11): 986–993. doi:10.1016/S1474-4422(18)30294-1.
{{cite journal}}: Check date values in:|date=(help) - ^ a b MSc, Janet Stewart (2018-01-10). "Juvenile Huntington's Disease". Huntington's Disease News. Retrieved 2020-03-06.