HARD Syndrome
HARD Syndrome Causes
Gene mutations are responsible for causing HARD syndrome.
HARD Syndrome Definition
HARD syndrome, also known as Walker-Warburg syndrome, is a congenital muscular dystrophy related to eye and brain abnormalities. Around 30 different muscular disorders are classified under the HARD syndrome.
HARD Syndrome Diagnosis
Laboratory examinations presenting elevated creatine kinase levels, altered dystroglycan, and myopathic/dystrophic muscle pathology are needed for diagnosis.
HARD Syndrome Symptoms and Signs
Symptoms include macrogyria, argyria, brain abnormalities, thick brain cortex, absent septum pallucidum, absent corpus callosum, hypoplastic septum pallucidum, hydrocephalus, cataract, hypoplastic corpus callosum, brain abnormalities, ventriculomegaly, Peters anomaly, Dandy-Walker malformation, glaucoma, corneal clouding, small eye, coloboma, retinal detachment, seizures, retinal dysplasia, retinal malformations, and genital anomalies in males.