Search for a rare disease
Other search option(s)
Symmetrical thalamic calcifications
Disease definition
Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness.
ORPHA:1314
Classification level: Disorder- Synonym(s):
- Bilateral symmetrical thalamic gliosis
- Prevalence: <1 / 1 000 000
- Inheritance: Not applicable
- Age of onset: Neonatal
- ICD-10: G93.8
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 5070
- MedDRA: -
Summary
Epidemiology
It is an extremely rare condition, with about 30 cases described in the literature.
Diagnostic methods
The calcifications are revealed by computed tomography scanning.
Prognosis
The prognosis is very poor.
A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.