Parkinsonism-dystonia, infantile

Disorder
OMIM #:	#613135 (Click to access OMIM database)
Disorder:	Parkinsonism-dystonia, infantile
Also known as:	PKDYS Dopamine transporter deficiency syndrome (DTDS) Infantile Parkinsonism-dystonia syndrome
Clinical
Phenotype:	dystonia, chorea, Dopamine non-responsive Parkinsonism, motor delay, bradykinesia, feeding difficulties, progressive frontal lobe degeneration
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
Mutations
1 Old Order Mennonite
Gene:	SLC6A3
Base Change:	c.1269+1G>T
Amino Acid Change:	splicing defect
Last updated:	2023-02-02

References
Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936. PubMed ID: 22279524

References

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 7(1):e28936.
PubMed ID: 22279524

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