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.
Diagnosis:
Laboratory examinations presenting elevated creatine kinase levels, altered dystroglycan, and myopathic/dystrophic muscle pathology are needed for diagnosis.
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.
Causes:
Gene mutations are responsible for causing HARD syndrome.
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