The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on which gene is mutated. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy. How common is polycystic kidney disease?
Children are usually diagnosed before six months of age, more often before three months of age. Symptoms may even start in the womb. (Hockenberry & Wilson, 2007, p. 1816)The most cardinal clinical manifestation of the disease is inactivity. Other symptoms are floppy limbs and trunk, feeble movements of the arms and legs, swallowing difficulties, poor sucking reflex, weakness, absent deep tendon reflexes, weak cry or cough, , flaccid or reduced muscle tone, the patient may tire easily, exhibit a failure to thrive, posses abnormal tongue movements, and the patient is unable to sit alone, roll over independently, or walk. Their chest may appear concave or Bell-shaped.
Cystic Fibrosis Cystic fibrosis is a hereditary disease, which is caused by the accumulation of mucus in epithelial cells of the digestive, respiratory, and reproductive tracts. Cystic fibrosis transmembrane conductance regulator (CFTR) facilitates chloride channel and controls several other metabolic pathways. Mutations in the particular gene cause cystic fibrosis. CFTR gene functions in regulating sweat, digestive juices, and mucus. A human body consists of two functioning CFTR gene, and when neither gene functions efficiently, cystic fibrosis is developed, and hence has autosomal recessive inheritance.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Symptoms and other effects: Symptoms of sickle cell disease vary, ranging from mild to severe, and may be less severe or different in children who have inherited a sickle cell gene from one parent and a different abnormal haemoglobin gene from the other. Most people with sickle cell disease have some degree of anemia and might develop one or more of the following conditions and symptoms as part of the disorder: Acute chest syndrome: Inflammation, infection, and occlusion of small vessels may cause this syndrome. Signs include chest pain, coughing, difficulty breathing, and fever.
Creutzfeldt-Jakob disease, otherwise known as CJD, is a form of brain damage that leads to a rapid decrease of mental function and movement. CJD has been thought to be caused by a protein called prion. Prions cause normal proteins to fold abnormally, thus causing other proteins functions to then be affected. There are several types of Creutzfeldt-Jakob disease which are all very rare. CJD can be grouped in three categories: sporadic disease, familial cases, and iatrogenic cases.
1. UNDERSTAND THE NEUROLOGY OF DEMENTIA 1.1 Describe a range of causes of dementia syndrome Dementia syndrome is caused by damage to the brain cells; this damage interferes with the ability of brain cells to communicate each other. The most common causes of dementia are called neurodegenerative diseases, and include Alzheimer’s disease, frontotemporal dementia, and dementia with Lewy bodies. When brain cells can no longer communicate normally, thinking, behaviour and feelings can be affected. Dementia is an umbrella term for number of diseases; "over 130 are known today" that affect the memory, behaviour, and motor skills.
There are two main processes that are highly believed to be the main contributor to dementia development, the formation of the amyloid protein and cholinergic transmission (neurotransmitter Acetylcholine (Ach)). The amyloid cascade hypothesis refers to the disposition of the amyloid-β protein in the brain (loss of cholinergic neurons occur in the basal forebrain). Mutations then occur resulting in the gene amyloid precursor protein (APP) developing in the brain, and creating an imbalance between the amyloid- β production and removal; resulting in a cytotoxic build up of the amyloid protein, causing neuritic plaques and neurofibrillary tangles in the brain, which are present in the brain of AD patients (Karran, Mercken and Strooper, 2011). Support for this hypothesis arises from the knowledge that transgenic mice, which express the mutant human gene APP, show the changes most recognizable with AD (plaques and the memory deficits)(Selkoe, 2005). Cholinergic transmission can be defined as the physiological process that operates the neurotransmitter acetylcholine (ACh) to communicate between cells (Wess, 1993).
It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Symptoms usually begin to appear between three and five years of age. The disorder progresses rapidly, starting with muscle weakness in the legs and pelvis, and eventually spreading to the arms, necks, and other areas. By the age of 12, most boys cannot walk and require the use of a wheelchair. They can also develop scoliosis and tightness in their joints.
The disease is often detected in the first few weeks of life. Due to the buildup of lipids in the CNS, motor control, swallowing, and mental capabilities are impaired. In the very worst of cases most children do not live beyond two years, in mild cases some are known to live into their teen years. The trait is passed on when both parents carry a defective gene that moderates protein sphingomyelin. The likelihood of the child getting Farber’s is twenty five percent; there is a fifty percent chance that the child will carry the defective gene with no symptoms, a carrier.
Tay-Sachs Disease “A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes” (Genetic). One genetic disorder is Tay-Sac Disease which is caused by a genetic defect that is passed from parent to child. Tay-Sachs disease is a autosomal recessive disease characterized by an abnormal accumulation of certain fat compounds in the spinal cord and brain. Inheritance of Tay-Sachs Children can get this disease if both parents are carrier of Tay-Sachs than the baby can inherit the disease from each of them.