PIEZO2

Management

Management
Management is supportive and tailored to individual needs, such as cleft palate, oromotor and respiratory dysfunction, blepharophimosis, joint contractures and reduced muscle bulk. The aim is to enable the highest possible degree of independence and to prevent secondary complications such as failure to thrive, aspiration pneumonia and scoliosis. A general guideline has been published under http://www.orpha.net/data/patho/Ans/en/distal-arthrogryposis-type-3-EN.doc.pdf

Early intervention (physiotherapy, feeding assistance, speech and language therapy, assessment of pulmonary function, developmental progress and opthalmological problems, surgery for joint contractures if expected to result in improved function) is important and should ideally be delivered by a multidisciplinary team in the setting of a centre for rare diseases. There are no reports suggesting that PIEZO2-associated myopathies might predispose to malignant hyperthermia (Gleich, 2017).

Attention should be paid to possible stigmatization requiring psychological support for parents and their affected child and advice how to explain the PIEZO2-associated condition to teachers and others involved in the care of the affected individual. Depending on country there may be more or less specific patient interest groups such https://arthrogryposis.de; https://www.arthrogryposis.co.uk; https://amcsupport.org; http://www.taag.org.au;

A careful family history including physical examination of parents and siblings for mild signs of PIEZO2-associated conditions (e.g. contractures, bifid uvula, oculomotor dysfunction), in doubt complemented by parental testing for the familial PIEZO2 mutation(s) is necessary for reproductive counselling. Prenatal molecular diagnosis is technically possible, preimplantation diagnosis only for inherited mutations but not for de novo. However, for conditions such as DA3 and DA5, this may be considered problematic because in principle these conditions are compatible with a largely self-determined and fulfilled life. Genotype-phenotype correlation is limited with intrafamilial phenotypic variability being observed.