Partington syndrome, also known as Partington X-linked mental retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands. The symptoms are extrapyramidal and without cerebellar involvement. ARX gene mutations were reported in various forms of X-linked mental retardation, including Partington syndrome. ARX is considered to have an important role in neuronal proliferation, interneuronal migration and differentiation in the embryonic brain, and also in the differentiation of the testis. Expansion of polyalanine tracts, missense mutation outside the homeodomain and deletions of exon 5 cause non-malformation syndromes such as Partington syndrome.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H01920 Partington syndrome
