Autoszomális recesszív
Caused by changes in both copies of the FITM2 gene. Only a few families have been reported.
Tünetek és jelek
Progressive sensorineural hearing loss starting in childhood, dystonia and loss of motor skills, and ichthyosis-like dry, scaly skin. Poor growth has been described. Learning difficulty and leg stiffness (spastic paraplegia) have also been reported.
Mit változtat a diagnózis
Hearing assessment with hearing aids or cochlear implants, neurological care for dystonia, skin care and physiotherapy. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Vizsgált gének
Más néven
SIDDIS
