It is a rare genetic neurological disorder characterised by the spongy degeneration of the white matter in the brain. Canavan affects at birth. The affected newborn may look normal at birth, but they usually develop symptoms between 3-6 months of age. The symptoms of canavan disease include an abnormally large head, lack of head control, severely diminished muscle tone resulting in floppiness, and delay in reaching developmental sitting and walking. Most affected children deveolps lifethreatininb complications by 10 years of age. The cause of the rare disorder includes mutations in the aspartoacylase gene that affects the breakdown of N-acetylaspartic acid(NAA). It is inherited as an autosomal recessive condition. This disease affects men and women equally. The disorder affects all ethenic group, but happens with greater frequency in individuals of Ashkenazi Jewish descent. The carrier frequency is Ashkenazi Jewish is estimated to be high as one in 40-58 people. The risk for an affected child born to Ashkenazi Jewish parents is between 1 in 6,400 and 1 in 13,456. Diagnosis of canavan disease may be suspected in infants with the characteristic finding of the disorder. It may be confirmed by a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests. The tests may include gas chromatography-mass spectrometry, a device that can detect elevated levels of NAA in the urine. Elevated levels of NAA can also be detected in the blood and cerebrospinal fluid. Patient registry is the canavan disease patient insight network (PIN) is a shared network that collects experience directly from patients and families. PIN services to create a research ready community that can help drug developers and researchers get closer to the patients.
