PARKINSONISM-DYSTONIA, INFANTILE, 2; PKDYS2

Question 1

What is  PARKINSONISM-DYSTONIA, INFANTILE, 2; PKDYS2?

Accepted Answer

very rare

autosomal recessive

mutation in the SLC18A2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618049

Question 3

Which enzymes are involved?

Accepted Answer

Synaptic vesicular amine transporter

Disease	PARKINSONISM-DYSTONIA, INFANTILE, 2; PKDYS2
OMIM	618049 OMIM = Online Mendelian Inheritance of Men
Orphanet	352649
Protein (UniProt)	Synaptic vesicular amine transporter
Gene locus	10q25.3
ICD	G25.8
Summary	very rare autosomal recessive mutation in the SLC18A2 gene
Laboratory findings	5-Hydroxyindolacetic acid (5-HIAA) inc (urine) Dopamine dec (urine) Homovanillic acid (HVA) inc (urine)
Symptoms	ataxia cognitive impairment depression developmental delay dysarthria dystonia gait disturbance hyperreflexia hypotonia oculogyric crisis onset, childhood onset, infancy Parkinsonism profuse nasal and oropharyngeal secretions sweating tremor or twitching