This condition accounts for about 0.7% of all HD-like presentations. [jnnp.bmj.com]

Presentation is similar to Huntington disease. Chorea and dystonia are present in the majority of cases 1,2. Bradykinesia, tremor and rigidity may also occur 2. [radiopaedia.org]

We therefore propose that a diagnosis of HDL2 should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. [scielo.org.za]

[…] of patients with a HDL clinical presentation. [movementdisorders.org]

[…] patients with a HDL clinical presentation. [movementdisorders.onlinelibrary.wiley.com]

• Developmental Delay

  Also, when the onset of DRPLA occurs before the age of 20, we can detect psychotic symptoms, hyperactivity/impulsivity, restlessness, aggressive behaviours, autism-like features, and developmental delay or regression.18 The cognitive–behavioural profile [jnnp.bmj.com]

• Respiratory Distress

  distress, also referred to as ‘brain-thyroid-lung syndrome’, and therefore very different from HD. [jnnp.bmj.com]

• Increased Appetite

  As disease progresses, patients may exhibit affective or schizophrenic psychoses, particularly with paranoia delusions, as well as explosive and aggressive outbursts, apathy, alcohol abuse, sexual dysfunction and increased appetite. [jnnp.bmj.com]

• Excoriation

  Some additional features are, however, typical of chorea-acanthocytosis, especially particular compulsive behaviours like trichotillomania, or self-mutilating actions such as chronic head excoriations. [jnnp.bmj.com]

• Foot Deformity

  deformities secondary to dystonia and atrophy of peroneal muscles. [jnnp.bmj.com]

• Hypomimia

  Chorea, dystonia and hypomimia occur in 90% of patients with ataxia-teleangiectasia (AT), starting in the first decade and showing a rapid course. [jnnp.bmj.com]

• Head Banging

  Similarly severe, although at an earlier age of onset, the persistent self-injurious behaviours of Lesch–Nyhan syndrome consist of biting of fingers, hands, lips and cheeks, and head- or limb-banging against hard objects. [jnnp.bmj.com]

• Self-Mutilation

  Some additional features are, however, typical of chorea-acanthocytosis, especially particular compulsive behaviours like trichotillomania, or self-mutilating actions such as chronic head excoriations. [jnnp.bmj.com]

• Self-Mutilation

  Some additional features are, however, typical of chorea-acanthocytosis, especially particular compulsive behaviours like trichotillomania, or self-mutilating actions such as chronic head excoriations. [jnnp.bmj.com]

• Sexual Dysfunction

  As disease progresses, patients may exhibit affective or schizophrenic psychoses, particularly with paranoia delusions, as well as explosive and aggressive outbursts, apathy, alcohol abuse, sexual dysfunction and increased appetite. [jnnp.bmj.com]

• Ocular Flutter

  Finally, it is very important to point out that an early manifestation of ‘cerebellar’ eye movement abnormalities, for example, dysmetric saccades, square-wave jerks, ocular flutter, saccadic pursuit and gaze-evoked nystagmus, is typical of the most common [jnnp.bmj.com]

• Apraxia

  which is, however, much more severe in AOA types 1 and 2 and AT.25–27 When asked to look to one side, subjects with oculomotor apraxia turn their heads first, with eye contraversion, after which their eyes follow to the same side in several slow saccades [jnnp.bmj.com]

• Language Delays

  Juvenile HD differs from adult-onset HD in that it may exhibit a more rapid and severe cognitive deterioration, associated with speech and language delay. [jnnp.bmj.com]

• Babinski Sign

  FA is characterised by progressive trunk and limb ataxia, absent lower limb reflexes, Babinski sign, dysarthria, reduced vibratory sense and proprioception, visual problems, scoliosis, pes cavus, and cardiomyopathy. [jnnp.bmj.com]

However, traditional one-by-one genetic testing facilitating the diagnostic workup is increasingly replaced by simultaneous gene testing using next-generation multiple gene panels and whole exome/genome sequencing. [movementdisorders.org]

At least six studies described a diagnostic workup that excluded other genetic causes of HLD including neuroacanthocytosis, neurodegeneration with brain iron accumulation, DJ-1 mutations, cerebral autosomal dominant arteriopathy with subcortical infarcts [frontiersin.org]

• Acanthocytes

  However, the determination of an increased acanthocyte percentage in peripheral blood may not be sensitive enough with routine traditional methods, and may require phase contrast microscopy. [jnnp.bmj.com]

  The detection of acanthocytes often remains elusive, although the probability to detect the characteristic deformed erythrocytes can be increased by using a 1:1 dilution with physiological saline and phase contrast microscopy.[63] However, many hematology [movementdisorders.org]

  The detection of acanthocytes often remains elusive, although the probability to detect the characteristic deformed erythrocytes can be increased by using a 1:1 dilution with physiological saline and phase contrast microscopy.63 However, many hematology [movementdisorders.onlinelibrary.wiley.com]

• Neurofibrillary Tangle

  This picture has been named BHC 2, and a postmortem report in one of these patients surprisingly showed pathological changes remarkably similar to those typical of progressive supranuclear palsy (neurofibrillary tangles and tufted astrocytes immunoreactive [jnnp.bmj.com]

Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. [betterhealth.vic.gov.au]

Pipeline and Clinical Trials Pfizer's growing arsenal of rare disease treatments target diseases like Huntington's. More information is available on new drugs in our pipeline, as well as clinical trials of potential treatments. [pfizer.com]

Treatment and support There's currently no cure for Huntington's disease or any way to stop it getting worse. [nhs.uk]

Treatment and prognosis Supportive treatment is at the center of patient care. HDL2 is often aggressive, rapidly progressing to death in 10-20 years 7. References Promoted articles (advertising) [radiopaedia.org]

Other treatment for Huntington's disease is symptomatic and supportive. There are some treatments that may alleviate various symptoms temporarily. [rarediseases.org]

Treatment and prognosis Supportive treatment is at the center of patient care. HDL2 is often aggressive, rapidly progressing to death in 10-20 years 7. References Promoted articles (advertising) [radiopaedia.org]

[…] syndrome Supergrp Core neuroacanthocytosis syndromes [DS:H00832] Description Huntington 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 [genome.jp]

Etiology A diagnosis of HLD2 is based on genetic profiling. Specifically, the absence of genetic alteration in the huntingtin gene and the presence of repeat expansions in the junctophilin 3 (JPH3) gene. [radiopaedia.org]

Abstract 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. [pubmed.ncbi.nlm.nih.gov]

[…] in PRNP. 6 Nishida Y...Mizusawa H 15557533 2004 42 The effect of disease-associated mutations on the folding pathway of human prion protein. 6 Apetri AC...Surewicz WK 14761942 2004 43 When sporadic disease is not sporadic: the potential for genetic etiology [malacards.org]

Chorea may have numerous causes, including acquired and inherited etiologies. [movementdisorders.org]

Br J Psychiatry 155: 799–804 CAS Article Google Scholar 3 Harper PS (1992) The epidemiology of Huntington's disease. [nature.com]

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J. Neurol. Neurosurg. Psychiatr. 88, 540–549. doi: 10.1136/jnnp-2016-315018 PubMed Abstract | CrossRef Full Text | Google Scholar [frontiersin.org]

The molecular pathophysiology is not fully understood. [movementdisorders.onlinelibrary.wiley.com]

But treatments can't prevent the physical, mental and behavioral decline associated with the condition. Symptoms Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. [mayoclinic.org]

Folic acid taken before conception, and during at least the first four weeks of pregnancy, can prevent around seven out of 10 cases of neural tube defects. [betterhealth.vic.gov.au]

Researchers have been looking for ways to use gene therapy for cure, slow, or prevent Huntington’s disease. [medicalnewstoday.com]

With this training, your mobility is improved, and falls may be prevented. [healthline.com]

A May 2004 report from the Department of Medical Genetics at Cambridge University maintains that rapamycin, a drug used to prevent organ rejection after transplants, appears to slow the progress of Huntington’s disease. [rarediseases.org]