Title : A Family of rare Genetic Disorders
Abstract:
McLeod neuroacanthocytosis syndrome is a ultra rare genetic disorder that occurs almost exclusively in males.It affects brain and spinal cord. Affected individual develops jerky movements of arms, legs, dystonia of face ,tongue which ultimately leads to swallowing difficulty. It is also characterised by abnormal star shaped cells called acanthocytes on periphera blood smear. We report a family where mother died due to abnormal neurological disorder(not documented), daughter has huntington chorea , middle son has McLeod neuroacanthocytosis.
Key words-McLeod neuroacanthocytosis, Huntington chorea, jerky movements, acanthocytes, dystonia
