PKDYS
MCID: PRK101
MIFTS: 33
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Parkinsonism-Dystonia, Infantile, 1 (PKDYS)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Parkinsonism-Dystonia, Infantile, 1:
Name: Parkinsonism-Dystonia, Infantile, 1
57
Characteristics:Orphanet epidemiological data:59
infantile dystonia-parkinsonism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset in early infancy decreased life expectancy death often in the teenage years poor response to l-dopa HPO:32
parkinsonism-dystonia, infantile, 1:
Onset and clinical course infantile onset progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases |
NIH Rare Diseases
:
53
Dopamine transporter deficiency syndrome (DTDS) is a rare movement disorder that causes progressive (worsening) dystonia and parkinsonism. It usually begins in infancy ('classic DTDS') and for this reason, it is also known as 'infantile parkinsonism dystonia.' However, some people with DTDS may not develop symptoms until childhood or later (which is known as 'atypical DTDS').
The dystonia in DTDS is characterized by uncontrollable (involuntary), long-lasting muscle contractions and cramps that involve many different muscles. Dystonia causes difficulty with daily activities and impairs the ability to talk, eat, drink, pick up objects, and walk. Parkinsonism develops as the disorder progresses and is characterized by tremor (shaking), slowed movements (bradykinesia), rigidity (stiffness), and impaired balance and coordination. Additional symptoms that may be present include abnormal eye movements, reduced facial expressions, irritability, sleeping problems, digestive problems (such as reflux or constipation), and recurrent pneumonia which can be life-threatening. Classic DTDS is associated with a poor outlook (prognosis), and death may occur in the teenage years due to unexplained sudden causes or respiratory complications. Those with atypical DTDS may have milder symptoms and a longer lifespan, but the long-term outlook for this form is not well-known.
DTDS is caused by mutations in the SLC6A3 gene and inheritance is autosomal recessive. There is no cure for DTDS; treatment aims to relieve symptoms and increase quality of life. Treatment may include medicines to control involuntary movements (such as tetrabenazine and benzodiazepines), medicines to control dystonia (such as pramipexole and ropinirole), and physical therapy to reduce the risk of contractures from muscle rigidity.
MalaCards based summary : Parkinsonism-Dystonia, Infantile, 1, also known as pkdys, is related to slc6a3-related dopamine transporter deficiency syndrome and diastrophic dysplasia, and has symptoms including tremor, constipation and abnormal pyramidal signs. An important gene associated with Parkinsonism-Dystonia, Infantile, 1 is SLC6A3 (Solute Carrier Family 6 Member 3). Affiliated tissues include eye, lung and brain, and related phenotypes are constipation and chorea Genetics Home Reference : 25 Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later. OMIM : 57 Infantile parkinsonism-dystonia, also known as dopamine transporter deficiency syndrome (DTDS), is an autosomal recessive complex motor neurologic disorder with onset in infancy. Affected individuals show hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor. Other features may include axial hypotonia, pyramidal tract signs, and eye movement abnormalities. Many patients are misdiagnosed as having cerebral palsy. Cognitive function appears to be less severely affected, but most patients die in the teenage years. There is no effective treatment. Laboratory studies show an increased ratio of homovanillic acid (HVA) to 5-hydroxyindoleacetic acid (5-HIAA) in cerebrospinal fluid (CSF), which represents an increased ratio of dopamine to serotonin metabolites (review by Kurian et al., 2011). (613135) UniProtKB/Swiss-Prot : 75 Parkinsonism-dystonia infantile: A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613135Human phenotypes related to Parkinsonism-Dystonia, Infantile, 1:59 32 (show all 28)
UMLS symptoms related to Parkinsonism-Dystonia, Infantile, 1:tremor, constipation, abnormal pyramidal signs, bradykinesia, muscle rigidity, dystonia, limb |
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MalaCards organs/tissues related to Parkinsonism-Dystonia, Infantile, 1:41
Eye,
Lung,
Brain
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Articles related to Parkinsonism-Dystonia, Infantile, 1:
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UniProtKB/Swiss-Prot genetic disease variations for Parkinsonism-Dystonia, Infantile, 1:75
ClinVar genetic disease variations for Parkinsonism-Dystonia, Infantile, 1:6 (show top 50) (show all 92)
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GEO
for disease gene expression data for Parkinsonism-Dystonia, Infantile, 1.
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