Amaurotic-hemiplegic syndrome

Amaurotic-hemiplegic syndrome (Michoninka syndrome; also known as Wallenberg-Salens syndrome; Dutch amaurosis hemiplegica; Latin amauros - blind, blind + Latin hæmiplegicus - hemiplegic) is a rare hereditary disease characterized by photophobia, muscle weakness, visual and sensory disorders in the lower extremities on one side and cerebellar disorders in combination with hemiparesis on the opposite side. The main causes of the disease are mutations in the ATP13A2 gene, located on different chromosomes and leading to similar biochemical consequences (“misassembly mutations” of mitochondria). Possible genetic causes of the syndromes may also include some subtypes of Hallervorden-Spath syndrome

Amaurotic-hemiplegia syndrome (AHS), or Hilleland syndrome, is a rare genetically heterogeneous disease caused by mutations in the genes encoding tyrosine kinase metabolic proteins of neurons of the retina and brain and leading to the development of progressive pigmentary retinopathy set