Trouble recognizing faces, objects and colors can signal cerebral visual impairment; genetic testing has tied CVI and intellectual disability to PGAP1 variants.
A weak, breathy voice with swallowing and breathing trouble sets CMT-VCP apart; the subtype is autosomal dominant, and EMG and imaging support diagnosis.
Discover X-linked Charcot-Marie-Tooth disease, its diagnosis, and the importance of genetic testing for this inherited neurological disorder. Learn about treatment and family…
Worsening problems with balance, speech and coordination define this group of disorders; genetic testing, CANVAS and PRNP truncation testing are covered.
Smaller head circumference at birth with intellectual disability and developmental delay marks MCPH; 25 known genes and prenatal testing feature.
Developmental delay, intellectual disability, autism, epilepsy and feeding difficulties follow CLCN4 mutations; prenatal and postnatal testing are described.
One gene mutation inherited from a single parent causes this form of clefting, sometimes linked to Van Der Woude Syndrome; testing also identifies carriers.
Low CoQ10 levels can bring muscle weakness, seizures, ataxia and trouble controlling eye movements. Blood tests, muscle biopsy, MRI and DNA analysis are covered.