DISEASE Angelman syndrome
Charcotâ€“ Marieâ€“Tooth disease
DESCRIPTION Is a neurogenetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially handflapping), frequent laughter or smiling, and usually a happy demeanor. Is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative cerebreal diseases of infancy. This disease is one of a group of genetic disorders called leukodystrophies. Is a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue
TREATMENT No cure available
Treatment is symptomatic and supportive, but there is an experimental treatment using lithium citrate.
and touch sensation across various parts of the body. Is the inability or No treatment. decreased ability to see color, or perceive color differences, under normal lighting conditions. Color blindness affects a significant percentage of the population
Cri du chat
Is a rare genetic disorder due to a missing part of chromosome 5.
Is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Down syndrome is the most common chromosome abnormality in humans. It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth
Management strategies such as Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrom
cell Is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickle-cell disease occurs more commonly among people whose ancestors lived in tropical and sub-tropical sub-saharan regions where malaria is or was common.
Is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet.
Children born with sickle-cell disease will undergo close observation by the pediatrician and will require management by a haematologist to assure they remain healthy. These patients will take a 1 mg dose of folic acid daily for life. From birth to five years of age, they will also have to take penicillin daily due to the immature immune system that makes them more prone to early childhood illnesses. While there are no cures for cystic fibrosis there are several treatment methods.
If PKU is diagnosed early enough, an affected newborn can grow up with normal brain development, but only by managing and controlling Phe levels through diet, or a combination of diet and medication.
is a group of muscle diseases that weaken the musculoskeletal system and hamper locomotion. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
There is no known cure for muscular dystrophy, although significant headway is being made with antisense oligonucleotides.
Though there is no cure for haemophilia, it can be controlled with regular infusions of the deficient clotting factor, i.e. factor VIII in haemophilia A or factor IX in haemophilia B. Factor replacement can be either isolated from human blood serum, recombinant, or a combination of the two.
is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay– Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that commences around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain's nerve cells.
There is currently no cure or treatment for Tay–Sachs disease. Even with the best care, children with infantile Tay–Sachs disease die by the age of 4.