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

Pathogenicity might be related to the presence of mRNA inclusions.[27] Huntington's Disease-like 3 Al-Tahan et al.[28] and Kambouris et al.[6] both reported an autosomal recessive variant of HD from Saudi Arabia that presented with early onset mental [medscape.org]

[…] spinocerebellar ataxias type 1 and 3, neuroacanthocytosis, dentatorubral-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia and mitochondrial diseases.[1] A Huntington's disease-like presentation [en.wikipedia.org]

In recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable from HD, termed HD-like (HDL) syndromes. [genome.jp]

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]

• 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]

• 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]

• 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]

• Trichotillomania

  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]

• 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]

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]

• 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]

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

At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you. Know why a new medicine or treatment is prescribed, and how it will help you. [hopkinsmedicine.org]

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

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 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]

Since the identification of the causative mutation, it has been recognized that a number of patients with the classical HD phenotype have disease due to another etiology. [scielo.br]

[…] 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]

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]

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]

Br J Psychiatry 155: 799–804 Article CAS PubMed Google Scholar 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]

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]

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]

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

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