Primary Immune Deficiencies
Primary Immune Deficiencies or Primary Immune Disorders are a group of rare, genetic disorders (with more than 350 types) which cause dysfunction in the immune system.
Centre for Health Education and Technology
Primary Immune Deficiencies or Primary Immune Disorders are a group of rare, genetic disorders (with more than 350 types) which cause dysfunction in the immune system.
Spinocerebellar Ataxia refers to a group of hereditary ataxias which are characterised by degeneration in the cerebellum and spinal cord.
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 (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.
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 is a rare, autosomal recessive disorder which causes progressive skeletal muscle weakness and atrophy.
Huntington Disease (HD) is a genetic, progressive brain disorder causing breakdown of nerve cells in the brain. This leads to deteriorating mental and physical abilities of affected individuals ultimately leading to death. Affected individuals present with symptoms like movement issues, cognitive decline, neuropsychiatric issues and emotional disturbances.