ataxia-telangiectasia-like disorder
MeSH: C565779ORPHA: 251347
Overview
autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with ataxia-telangiectasia-like disorder, sourced from HPO and Orphanet clinical annotations.
AtaxiaMask-like faciesSlow saccadic eye movementsOculomotor apraxiaDysarthriaCerebellar atrophyGeneralized hypotoniaDysmetriaReduced tendon reflexesCerebellar vermis hypoplasiaDystoniaGait ataxiaChoreaIntention tremorDilated fourth ventricleOrofacial dyskinesiaAbsent Achilles reflexEnlarged interhemispheric fissureAbnormality of ocular smooth pursuitGaze-evoked nystagmusDysmetric saccadesDelayed speech and language developmentHypergonadotropic hypogonadismMyoclonusJoint hypermobilityPes cavusDysdiadochokinesisDroolingFrequent fallsHyperactive deep tendon reflexesSensorimotor neuropathyVertical nystagmusSmall posterior fossaShort stature
Classification & Codes
MeSH Code
C565779Orphanet Code
ORPHA:251347ataxia-telangiectasia-like disorder
| MeSH | C565779 |
| Orphanet | ORPHA:251347 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO