eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | dystonia |
| Comorbidity | C0025958|microcephaly |
| Sentences | 2 |
| PubMedID- 25160555 | Results: because of the association of microcephaly, developmental delay with dystonic movements, the imaging results, and the probable autosomal recessive inheritance pattern, genetic analysis was requested. |
| PubMedID- 22691284 | Neurological findings including severe psychomotor retardation, quadruspasticity and microcephaly accompanied with marked dystonia, excessive sweating in the first patient was compatible with the diagnosis of tyrosine hydroxylase (th) deficiency (type b) and subsequent molecular analysis revealed two novel heterozygous mutations c.636a>c and c.1124g>c in the th gene. |
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