Discover the role of genetic testing in diagnosing progressive cerebellar ataxia, uncovering underlying causes, and developing personalized treatment plans for patients.
Color vision and central vision decline as cone cells deteriorate; eye exams plus DNA analysis of genes such as SLC4A7, CFAP410, ABCA4 and HBS1L give a diagnosis.
Unlock the mysteries of progressive muscle weakness through genetic testing! Discover diagnostic insights, targeted treatments, and improved quality of life.
Weak hips, thighs and shoulders mark proximal muscle weakness, seen in proximal spinal muscular atrophy, inclusion body myositis and centronuclear myopathy.
Two effects of GNAS mutations can coexist: PTH resistance with low calcium and Albright's hereditary osteodystrophy, plus early puberty in boys that testing tells apart.
An underdeveloped or absent pulmonary valve limits blood flow to the lungs; prenatal screening, echocardiography and next-generation sequencing all feature in diagnosis.
Jeune syndrome and its DYNC2H1 mutation, Mycoplasma genitalium typing and repeat urinary tract infections each show a genetic side to infection risk.
Nerve damage, muscular dystrophy and bone abnormalities can all make the shoulder blade protrude; some cases trace to FSHD, where the DUX4 gene becomes active.