AUTOSOMAL GENETIC DISORDERS WITH THEIR SYMPTOMS
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Genetic disorder is an effect caused by the abnormal genes or chromosomes.
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Abnormality of genes or chromosomes is due to mutation or inherited disorder.
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Therefore, genetic disorder may or may not be a heritable disorder.
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Autosomal disorder means the inherited disorder takes place on autosomal chromosome.
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There are two types of autosomal disorders:
1. Autosomal dominant
2. Autosomal recessive
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This type of disorder is also known as single gene disorder.
1. Autosomal Dominant:
If the disorder is autosomal dominant, the abnormal gene of parent can easily expressed into the offspring.
Examples:
(a) Huntington’s disease: abnormal chromosome 4, due to that nerve and other parts of brain degenerate.
Symptoms:
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Behavioral disturbance
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Hallucination
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Irritability
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Restlessness
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Moodiness
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Psychosis
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Slow uncontrolled movements
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Disorientation or confusion
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Loss of memory
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Speech impairment
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Anxiety, stress and tension
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Personality changes
(b) Polycystic kidney disease:
Symptoms:
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Abdominal pain
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Blood in urine
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Excessive urination at night
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Pain in joints
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Drowsiness
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Nail abnormality
(c) Familial hypercholesterolemia: abnormal increase in LDL (bad cholesterol)
Symptoms:
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Formation of “xanthomas” means deposition of fatty skin on hands, elbows, knees, ankles and also around the cornea of eye.
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Deposition of cholesterol in eyelids.
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Chest pain
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Coronary artery disease
(d) Neurofibromatosis type I: Tumor of nerve tissue
Symptoms:
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Blindness
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Pain
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Convulsions
(e) Hereditary spherocytosis: also known as congenital spherocytic anemia. Sphere shaped RBCs.
Symptoms:
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Fatigue
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Weakness
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Irritability
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Shortness of breath
2. Autosomal Recessive:
An autosomal recessive disorder means presence of two abnormal copies of gene for development of disease.
Examples:
(a) Sickle cell anemia: abnormal sickle shaped RBC
Symptoms:
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Fatigue
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Paleness
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Rapid heart rate
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Short breathing
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Jaundice
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Blindness
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Lung, bone and urinary infection
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Ulcer
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Delay of growth
(b) Cystic fibrosis: production of thick and sticky fluid called mucus in the body, due to abnormal gene.
Symptoms:
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Delayed growth
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Weight loss
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Fatigue
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Nausea
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Loss of appetite
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Cough
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Inflammation of pancreas
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Infertility
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Fever
(c) Tay-Sachs Disease: severe disease of nervous system
Symptoms:
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Deafness
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Blindness
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Loss of muscle strength
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Dementia
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Paralysis
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Seizures
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Slow growth
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Irritability
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Slow mental growth
(d) Phenylketonuria: Loss the ability for breakdown an amino acid called phenylalanine.
Symptoms:
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Slow mental growth
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Small size of head than normal size
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Hyperactivity
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Tremors
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Mental retardation
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Seizures
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Skin rashes
(e) Glycogen storage disease:
Symptoms:
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Heart failure
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Renal failure
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Hemolytic anemia
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Lactic acidosis
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Week muscles growth
(f) Galactosemia: Unable to metabolize galactose
Symptoms:
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Amino acids in urine and blood (aminoaciduria)
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Enlarged liver
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Hypoglycemia
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Convulsions
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Vomiting
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Irritability
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Lethargy
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Jaundice
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Poor weight gain
