Presentation
Author History Frank Baas, MD, PhD (2014-present) Peter G Barth, MD, PhD; University of Amsterdam (2014-2020) Veerle RC Eggens, MSc; University of Amsterdam (2014-2020) Tessa van Dijk, MD, PhD (2020-present) Revision History 24 September 2020 (bp) Comprehensive [ncbi.nlm.nih.gov]
The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. [medlineplus.gov]
Eyes
- Strabismus
Many are unable to fix and follow, and many show strabismus and/or nystagmus. Possibly, the nystagmus in some children results from early-onset visual impairment, but clear evidence is lacking. [ncbi.nlm.nih.gov]
Musculoskeletal
- Muscle Hypotonia
Neurologic Findings Common Hypotonia (onset is usually at birth, but a later onset is possible) Signs of neurogenic muscle atrophy, such as muscle atrophy and decreased tendon reflexes Central motor neuron signs (spasticity, dystonia), especially in individuals [ncbi.nlm.nih.gov]
Treatment
Medical geneticist, certified genetic counselor, or certified advanced genetic nurse Treatment of Manifestations No specific treatment for EXOSC3-PCH exists; the goals are to maximize function and reduce complications. [ncbi.nlm.nih.gov]