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Huntington disease-like 3(HDL3)

MedGen UID:
347622
Concept ID:
C1858114
Disease or Syndrome
Synonyms: HDL3; HUNTINGTON DISEASE-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL RECESSIVE
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 604802
Orphanet: ORPHA157946

Definition

As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease. Researchers have described four HDL syndromes, designated Huntington disease-like 1 (HDL1) through Huntington disease-like 4 (HDL4). These progressive brain disorders are characterized by uncontrolled movements, emotional problems, and loss of thinking ability. HDL syndromes occur in people with the characteristic features of Huntington disease who do not have a mutation in HD, the gene typically associated with that disorder.HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can begin earlier in life. The first signs and symptoms of these conditions often include irritability, emotional problems, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many affected people develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these abnormal movements become more pronounced. Affected individuals may develop problems with walking, speaking, and swallowing. People with these disorders also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with an HDL syndrome can live for a few years to more than a decade after signs and symptoms begin.HDL3 begins much earlier in life than most of the other HDL syndromes (usually around age 3 or 4). Affected children experience a decline in thinking ability, difficulties with movement and speech, and seizures. Because HDL3 has a somewhat different pattern of signs and symptoms and a different pattern of inheritance, researchers are unsure whether it belongs in the same category as the other HDL syndromes.
[from GHR]

Clinical features

Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.
Dystonia
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Bowel incontinence
MedGen UID:
41977
Concept ID:
C0015732
Disease or Syndrome
Failure of voluntary control of the anal sphincters, with involuntary passage of feces and flatus.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Mutism
MedGen UID:
6476
Concept ID:
C0026884
Disease or Syndrome
The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with BRAIN DISEASES or MENTAL DISORDERS. Organic mutism may be associated with damage to the FRONTAL LOBE; BRAIN STEM; THALAMUS; and CEREBELLUM. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. (From Fortschr Neurol Psychiatr 1994; 62(9):337-44)
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Abnormal pyramidal signs
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Abnormality of extrapyramidal motor function
MedGen UID:
115941
Concept ID:
C0234133
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Caudate atrophy
MedGen UID:
346745
Concept ID:
C1858116
Finding
Morphological abnormality of the pyramidal tract
MedGen UID:
892809
Concept ID:
C4021761
Anatomical Abnormality
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
Frontal cortical atrophy
MedGen UID:
870517
Concept ID:
C4024965
Anatomical Abnormality
Atrophy of the frontal cortex.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHuntington disease-like 3
Follow this link to review classifications for Huntington disease-like 3 in Orphanet.

Recent clinical studies

Etiology

Baine FK, Krause A, Greenberg LJ
Neuroepidemiology 2016;46(3):198-202. Epub 2016 Feb 17 doi: 10.1159/000444020. PMID: 26882115
Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R
Am J Med Genet B Neuropsychiatr Genet 2015 Oct;168(7):573-85. Epub 2015 Jun 16 doi: 10.1002/ajmg.b.32332. PMID: 26079385Free PMC Article
Paradisi I, Ikonomu V, Arias S
J Hum Genet 2013 Jan;58(1):3-6. Epub 2012 Sep 13 doi: 10.1038/jhg.2012.111. PMID: 22971727
Rodrigues GR, Walker RH, Bader B, Danek A, Brice A, Cazeneuve C, Russaouen O, Lopes-Cendes I, Marques W Jr, Tumas V
Arq Neuropsiquiatr 2011 Jun;69(3):419-23. PMID: 21755114
Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J
Clin Genet 2008 May;73(5):480-5. Epub 2008 Mar 12 doi: 10.1111/j.1399-0004.2008.00981.x. PMID: 18341606

Diagnosis

Baine FK, Krause A, Greenberg LJ
Neuroepidemiology 2016;46(3):198-202. Epub 2016 Feb 17 doi: 10.1159/000444020. PMID: 26882115
Krause A, Mitchell C, Essop F, Tager S, Temlett J, Stevanin G, Ross C, Rudnicki D, Margolis R
Am J Med Genet B Neuropsychiatr Genet 2015 Oct;168(7):573-85. Epub 2015 Jun 16 doi: 10.1002/ajmg.b.32332. PMID: 26079385Free PMC Article
Castilhos RM, Souza AF, Furtado GV, Gheno TC, Silva AL, Vargas FR, Lima MA, Barsottini O, Pedroso JL, Godeiro C Jr, Salarini D, Pereira ET, Lin K, Toralles MB, Saute JA, Rieder CR, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira ML, Jardim LB
Clin Genet 2014 Oct;86(4):373-7. Epub 2013 Oct 17 doi: 10.1111/cge.12283. PMID: 24102565
Santos C, Wanderley H, Vedolin L, Pena SD, Jardim L, Sequeiros J
Clin Genet 2008 May;73(5):480-5. Epub 2008 Mar 12 doi: 10.1111/j.1399-0004.2008.00981.x. PMID: 18341606
Bardien S, Abrahams F, Soodyall H, van der Merwe L, Greenberg J, Brink T, Carr J
Mov Disord 2007 Oct 31;22(14):2083-9. doi: 10.1002/mds.21672. PMID: 17708569

Therapy

Binawade Y, Jagtap A
J Med Food 2013 Oct;16(10):934-43. doi: 10.1089/jmf.2012.2698. PMID: 24138168

Prognosis

Gantenbein AR, Damon-Perrière N, Bohlender JE, Chauveau M, Latxague C, Miranda M, Jung HH, Tison F
Mov Disord 2011 Sep;26(11):2123-6. Epub 2011 Jun 28 doi: 10.1002/mds.23843. PMID: 21714011
Margolis RL, O'Hearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA
Ann Neurol 2001 Sep;50(3):373-80. PMID: 11558794
Xiang F, Almqvist EW, Huq M, Lundin A, Hayden MR, Edström L, Anvret M, Zhang Z
Am J Hum Genet 1998 Nov;63(5):1431-8. doi: 10.1086/302093. PMID: 9792871Free PMC Article

Clinical prediction guides

Cicchetti F, Saporta S, Hauser RA, Parent M, Saint-Pierre M, Sanberg PR, Li XJ, Parker JR, Chu Y, Mufson EJ, Kordower JH, Freeman TB
Proc Natl Acad Sci U S A 2009 Jul 28;106(30):12483-8. Epub 2009 Jul 20 doi: 10.1073/pnas.0904239106. PMID: 19620721Free PMC Article
Stevanin G, Brice A
Cerebellum 2008;7(2):170-8. doi: 10.1007/s12311-008-0016-1. PMID: 18418687
Shimohata T, Hara K, Sanpei K, Nunomura J, Maeda T, Kawachi I, Kanazawa M, Kasuga K, Miyashita A, Kuwano R, Hirota K, Tsuji S, Onodera O, Nishizawa M, Honma Y
Brain 2007 Sep;130(Pt 9):2302-9. Epub 2007 Apr 2 doi: 10.1093/brain/awm036. PMID: 17405764
Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A
Brain 2003 Jul;126(Pt 7):1599-603. Epub 2003 May 6 doi: 10.1093/brain/awg155. PMID: 12805114
Xiang F, Almqvist EW, Huq M, Lundin A, Hayden MR, Edström L, Anvret M, Zhang Z
Am J Hum Genet 1998 Nov;63(5):1431-8. doi: 10.1086/302093. PMID: 9792871Free PMC Article

Recent systematic reviews

Anderson DG, Walker RH, Connor M, Carr J, Margolis RL, Krause A
J Huntingtons Dis 2017;6(1):37-46. doi: 10.3233/JHD-160232. PMID: 28339400

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