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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Dentatorubral-pallidoluysian atrophy


Other Names for this Disease

  • Ataxia, chorea, seizures, and dementia
  • Dentatorubropallidoluysian atrophy
  • DRPLA
  • Haw River syndrome
  • Myoclonic epilepsy with choreoathetosis
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Symptoms

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What are the signs and symptoms of dentatorubral-pallidoluysian atrophy (DRPLA)?

The signs and symptoms of DRPLA differ somewhat between affected children and adults.

When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellectual disability; and problems with balance and coordination (ataxia).[1] Epileptic seizures occur in all individuals with onset before 20 years of age.[2]

When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia; uncontrollable movements of the limbs (choreoathetosis); psychiatric symptoms such as delusions; and deterioration of intellectual function (dementia).[1] Seizures are less frequent in individuals with onset between the ages of 20 and 40. Seizures are rare in individuals with onset after age 40.[2]

Individuals who have inherited the condition from an affected parent typically have symptoms 26 to 29 years earlier than affected fathers, and 14 to 15 years earlier than affected mothers.[2]
Last updated: 9/5/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Dentatorubral-pallidoluysian atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal dermatoglyphics 90%
Abnormality of dental morphology 90%
Abnormality of lipid metabolism 90%
Anteverted nares 90%
Atrophy of the dentate nucleus 90%
Fetal cystic hygroma 90%
Increased nuchal translucency 90%
Micrognathia 90%
Muscular hypotonia 90%
Short stature 90%
Toe syndactyly 90%
Abnormal lung lobation 50%
Abnormality of female external genitalia 50%
Abnormality of immune system physiology 50%
Abnormality of the hip bone 50%
Abnormality of the larynx 50%
Abnormality of the metacarpal bones 50%
Abnormality of the nipple 50%
Aplasia/Hypoplasia of the cerebellum 50%
Aplasia/Hypoplasia of the lungs 50%
Attention deficit hyperactivity disorder 50%
Autism 50%
Cleft palate 50%
Complete atrioventricular canal defect 50%
Cryptorchidism 50%
Cutaneous photosensitivity 50%
Cutis marmorata 50%
Defect in the atrial septum 50%
Displacement of the external urethral meatus 50%
Gingival overgrowth 50%
Hypoplasia of penis 50%
Intrauterine growth retardation 50%
Long philtrum 50%
Low-set, posteriorly rotated ears 50%
Narrow forehead 50%
Polyhydramnios 50%
Postaxial foot polydactyly 50%
Postaxial hand polydactyly 50%
Proximal placement of thumb 50%
Ptosis 50%
Reduced consciousness/confusion 50%
Self-injurious behavior 50%
Short neck 50%
Sleep disturbance 50%
Tracheal stenosis 50%
Ventricular septal defect 50%
Ventriculomegaly 50%
Wide mouth 50%
Abnormal form of the vertebral bodies 7.5%
Abnormal localization of kidney 7.5%
Abnormality of dental enamel 7.5%
Abnormality of the eyelashes 7.5%
Abnormality of the gallbladder 7.5%
Abnormality of the ribs 7.5%
Abnormality of the spleen 7.5%
Abnormality of the ureter 7.5%
Advanced eruption of teeth 7.5%
Aganglionic megacolon 7.5%
Aplasia/Hypoplasia affecting the eye 7.5%
Aplasia/Hypoplasia of the corpus callosum 7.5%
Aplasia/Hypoplasia of the radius 7.5%
Aplasia/Hypoplasia of the tongue 7.5%
Bifid tongue 7.5%
Brachydactyly syndrome 7.5%
Cataract 7.5%
Choanal atresia 7.5%
Congenital diaphragmatic hernia 7.5%
Downslanted palpebral fissures 7.5%
Epicanthus 7.5%
Finger syndactyly 7.5%
Glaucoma 7.5%
Holoprosencephaly 7.5%
Hypertelorism 7.5%
Hypertonia 7.5%
Hypopigmentation of hair 7.5%
Increased number of teeth 7.5%
Iris coloboma 7.5%
Kyphosis 7.5%
Micromelia 7.5%
Multicystic kidney dysplasia 7.5%
Nystagmus 7.5%
Optic atrophy 7.5%
Patent ductus arteriosus 7.5%
Proptosis 7.5%
Pyloric stenosis 7.5%
Reduced number of teeth 7.5%
Renal hypoplasia/aplasia 7.5%
Sclerocornea 7.5%
Scoliosis 7.5%
Seizures 7.5%
Split hand 7.5%
Strabismus 7.5%
Talipes 7.5%
Ulnar deviation of finger 7.5%
Upslanted palpebral fissure 7.5%
Ataxia 25/25
Dementia 14/25
Seizures 12/25
Nystagmus 9/25
Chorea 7/25
Myoclonus 6/25
Abnormality of pyramidal motor function 5/25
Autosomal dominant inheritance -
Choreoathetosis -
Genetic anticipation -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Dentatorubral-pallidoluysian atrophy. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=dentatorubralpallidoluysianatrophy. Accessed 5/10/2010.
  2. Shoji Tsuji. DRPLA. GeneReviews. June 1, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1491/. Accessed 9/5/2012.


Other Names for this Disease
  • Ataxia, chorea, seizures, and dementia
  • Dentatorubropallidoluysian atrophy
  • DRPLA
  • Haw River syndrome
  • Myoclonic epilepsy with choreoathetosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.