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Juvenile Huntington Disease

JHD


Presentation

  • They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia.[ncbi.nlm.nih.gov]
Wheelchair Bound
  • Two years after the first manifestation, the patient became wheelchair-bound.[e-jmd.org]
Scissoring Gait
  • A young person with JHD may begin to walk on their toes or develop a stiff legged or scissored gait. Throughout the progression of JHD, there will be difficulties with chewing and swallowing as well as speaking.[huntingtonsociety.ca]
Kayser-Fleischer Ring
  • Ophthalmic examination did not show Kayser Fleischer ring. CT scan head showed atrophy of caudate nucleus with prominence of frontal horn of lateral ventricle [Figure. 1].[neurologyindia.com]
  • Both Kayser-fleischer ring and choreic movement were absent. Deep reflexes were brisk and Babinski’s sign was absent. Speech and muscle tone was normal. Blood routine and smear, liver function, iron and copper metabolism were of normal range.[bmcneurol.biomedcentral.com]
Inappropriate Sexual Behavior
Cerebellar Sign
  • One patient had progressive cerebellar signs associated with cerebellar atrophy on cerebral magnetic resonance imaging before signs suggestive of HD appeared.[ncbi.nlm.nih.gov]
  • Late chorea tends to involve proximal muscle groups associated features 50% - generalized tonic-clonic seizures 50% - cerebellar signs 20% - oculomotor apraxia gait disturbance more rapid course in children than in adults average of 8 years till death[endoflifecare.tripod.com]
  • signs may be detected in some patients.[neurologyindia.com]
  • In juvenile HD the movement disorder, rather than chorea, is primarily tremor, bradykinesia and dystonia. 3–5 In juvenile HD cerebellar signs, epilepsy, myoclonus and spasticity may also occur.[bmjopen.bmj.com]
Action Tremor
  • Patient had resting and action tremors. Investigation including haemogram, ESR, peripheral blood film, hepatic and renal function tests were normal. Ophthalmic examination did not show Kayser Fleischer ring.[neurologyindia.com]
Fine Tremor
  • After 5 year of onset of these symptoms, she lost interest in family members and her friends. 6 months prior to admission she developed slowness of gait and initiation and performance of routine work along with fine tremors all over the body.[neurologyindia.com]
Monotonous Speech
  • She had a slow and monotonous speech with diminished word output. Cogwheel rigidity was present in all four limbs with flexor planters. Glabellar tap, snout and pout reflexes were positive. Eye movements were also affected.[neurologyindia.com]
Generalized Seizure
  • The generalized seizures experienced by HD children are usually what are called tonic-clonic seizures. Generalized tonic-clonic seizures (or grand mal seizures) consist of both tonic and clonic phases.[web.stanford.edu]

Workup

Abnormal Spikes
Focal Spikes
  • Epileptiform discharges include generalized polyspike and slow-wave complex, spike and slow-wave complex, multifocal spikes and focal spikes.[e-jmd.org]
Polyspike-and-Slow-Waves
  • Epileptiform discharges include generalized polyspike and slow-wave complex, spike and slow-wave complex, multifocal spikes and focal spikes.[e-jmd.org]

Treatment

  • Specific treatments for the symptoms and signs of juvenile HD were analysed in detail. Those treatments prescribed more than twice for a particular patient were categorised as ‘regular’ treatments.[bmjopen.bmj.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Multidisciplinary approach with symptomatic treatment of specific symptoms is the current available management. Gene editing and gene silencing treatment are under trial.[jpnim.com]
  • Part 2: treatment and management issues in juvenile HD. Br J Nurs, 17 (4), 260-263 PMID: 18414272 E. Gomez-Tortosa (1998).[brainblogger.com]
  • Treatment of HD and JHD There is currently no cure for HD or JHD, and there are also no methods found of slowing the onset of the disease.[info.isabelhealthcare.com]

Prognosis

  • Prognosis Recovery usually occurs within 2 to 3 months. Relapses, esp. in young women, may occur when oral contraceptives are used or during pregnancy.[medical-dictionary.thefreedictionary.com]
  • Treatment and prognosis No treatment is currently generally available 4.[radiopaedia.org]
  • In addition the development of sensitive measurements that allow earlier diagnosis are expected to provide the ideal time for the use of disease-modifying therapy, such as gene silencing. [ 13 ] Prognosis This is currently a relentlessly progressive,[patient.info]
  • With annual assessments and no end date, Enroll-HD has built a large and rich database of longitudinal clinical data and biospecimens that form the basis for studies developing tools and biomarkers for progression and prognosis, identifying clinically-relevant[clinicaltrials.gov]

Etiology

  • […] disease gene test Susanne A Schneider, Ruth H Walker and Kailash P Bhatia Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology[hdlf.org]
  • The further investigation should be focus on the relationship between TS and HD, especially at the level of pathophysiology and genetic etiology.[bmcneurol.biomedcentral.com]
  • (Etiology) Genetic study and analysis have implicated anomalies in chromosome 4, with abnormal repetition of certain genetic material/sequence, as a primary factor for Huntington Disease The repeat sequence of DNA may vary anywhere between 36-120 times[dovemed.com]

Epidemiology

  • EPIDEMIOLOGY: incidence: 5-10/100,000 (prevalance) age of onset: of patients with Huntingon's Disease 10% have onset of symptoms prior to 20 years of age 5% have onset of symptoms prior to 14 years of age 1% have onset of symptoms prior to 10 years of[endoflifecare.tripod.com]
  • The estimates of incidence and prevalence of juvenile HD reported here are, therefore, the first to provide population-based epidemiological data on the frequency of this condition either in the UK or worldwide.[bmjopen.bmj.com]
  • Conneally PM: Huntington disease: genetics and epidemiology. Am J Hum Genet 1984;36:506-526. Harper PS: The epidemiology of Huntington's disease. Hum Genet 1992;89:365-376.[karger.com]
  • […] increases in the length of a cysteine-adenosine-guanine (CAG) triplet repeat present in a gene called 'huntingtin' (HTT) located on chromosome 4p16.3. [ 2 ] There are many symptomatic treatments but no therapies that alter disease progression. [ 3 ] Epidemiology[patient.info]
  • Squitieri F, Griguoli A, Capelli G, Porcellini A, D'Alessio B (2016) Epidemiology of Huntington disease: First post-HTT gene analysis of prevalence in Italy. Clin Genet 89: 367-370.[omicsonline.org]
Sex distribution
Age distribution

Pathophysiology

  • The further investigation should be focus on the relationship between TS and HD, especially at the level of pathophysiology and genetic etiology.[bmcneurol.biomedcentral.com]
  • Predictive genetic testing allows for early identification of HD carriers and observational studies are increasing knowledge of the pathophysiology and natural progression of HD.[patient.info]
  • Although our knowledge about the different pathophysiological processes that cause neuronal dysfunction and eventually lead to the specific pattern of neurodegeneration in HD has increased substantially over the last years, all attempts to establish a[dovepress.com]

Prevention

  • […] a manuscript is currenlty in preparation (2016): I am incredibly excited about this work which is designed to use the newest gene editing platform to cut out the extra CAG repeats from the patient's neural progenitors, correcting them and hopefully preventing[jannolta.com]
  • Anticonvulsant drugs are usually prescribed to help prevent and control the seizures that occur in children with juvenile HD.[web.stanford.edu]
  • This may prevent a rapid deterioration of the condition, and help sustain the quality of life. Patients diagnosed with HD may live anywhere between 10-30 years following the onset of symptoms.[dovemed.com]
  • Physical and occupational therapy may also be helpful for temporarily easing these symptoms, developing strategies for moving around, and preventing falls.[rarediseases.info.nih.gov]
  • Additionally, studies on mice found that CBD can prevent the degeneration of the same type of brain tissue affected by HD 3 .[elixinol.com]

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