X-linked neurodegenerative syndrome, Bertini type

X-linked neurodegenerative syndrome, Bertini type is a rare condition that has been described in seven males from three generations of one family. It is characterized by early onset of problems including low muscle tone (hypotonia), difficulty with movement and coordination (psychomotor deficit and congenital ataxia), and repeated lung infections. In some affected individuals, additional complications such as myoclonic encephalopathy, which affects brain function, and macular degeneration, which affects vision, have been observed.

People with this condition often show signs of low muscle tone, difficulty with movement and coordination, and recurrent bronchopulmonary infections. In those who survive past early childhood, neurological issues such as myoclonic encephalopathy and vision problems including macular degeneration have been reported.

This condition is linked to the X chromosome. The genetic locus for this syndrome has been mapped to Xp22.33-pter, suggesting that it follows an X-linked pattern of inheritance. However, specific gene mutations have not been identified in the available information.

Information about treatment is currently limited for this condition.

The prognosis for people with this condition appears to be severe. In the limited cases reported, several affected individuals died in early childhood, while others experienced significant neurological decline. Detailed outcomes are not well established due to the rarity of the syndrome.

Information about current research and future directions is currently limited for this condition.