Spinocerebellar Ataxia
Spinocerebellar Ataxia refers to a group of hereditary ataxias which are characterised by degeneration in the cerebellum and spinal cord.
Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a genetic disorder leading to progressive loss of muscle strength and movement. This leads to slow degeneration and affects walking, sitting, standing, head movements and sometimes even swallowing and breathing.
Muscular Dystrophy
Muscular dystrophy (MD) is a group of more than 30 inherited disorders which causes all the muscles in the body to weaken. This leads to progressive disability and the child/adult may not be able to walk or engage in everyday life activities.
Hereditary Ataxias
The hereditary ataxias are a group of genetic disorders leading to slow, progressive degeneration of normal gait and poor hands, speech and eye coordination.
GNE Myopathy
GNE myopathy is a rare, autosomal recessive disorder which causes progressive skeletal muscle weakness and atrophy.