Autosomal dominant: is a way of passing on disorder traits within a family. An autosomal dominant disease implies that a single abnormal gene from one parent is enough to express the disease.
Autosomal recessive: implies that two copies of the abnormal gene must be present to express the disease.
Chorea: a neurological symptom causing dance-like jerky movements affecting the upper and lower limbs and face.
Lipoid proteinosis: is an autosomal recessive disorder that occurs in infancy and is marked by hoarse voice, skin scars and thickening of skin and mucous membranes.
Mitochondrial myopathies: are a group of diseases affecting the mitochondria (the energy cells in our bodies). Mitochondrial diseases produce neuromuscular issues hence the name myopathy. Myo refers to muscles and pathy refers to disease.
Parkinson’s disease: a neurological disease generally affecting middle-aged and older people causing tremors, unsteady gait, muscular rigidity and loss of balance.
Herpes: is a virus affecting the skin.
Rubella: refers to German measles.
Toxoplasmosis: is a disease transmitted through the soil, undercooked meat and cat feces.
CSF analysis: is a test where a needle is inserted into the spine to draw the cerebrospinal fluid which is then tested for diseases affecting the nervous system.