subject: Mention Any Two Autosomal Genetic Disorder With Their Symptoms [print this page]
The blog effectively discusses two significant autosomal genetic disorders: Cystic Fibrosis (CF) and Huntington’s Disease (HD). Here’s an analysis focusing on their symptoms:
1. Cystic Fibrosis (CF) Nature: An autosomal recessive disorder caused by mutations in the CFTR gene.
Symptoms:
Respiratory Symptoms: Persistent coughing with thick mucus Frequent lung infections (e.g., pneumonia, bronchitis) Shortness of breath and wheezing Nasal polyps (growths inside the nose) Digestive Symptoms: Poor weight gain despite adequate food intake Greasy, bulky stools due to malabsorption Chronic constipation or intestinal blockage (meconium ileus in newborns) Reproductive Symptoms: Infertility in males due to blockage or absence of the vas deferens Reduced fertility in females due to thick cervical mucus Other Symptoms: Excessive salt loss in sweat, leading to dehydration or electrolyte imbalances Clubbing of fingers and toes (indicating long-term oxygen deficiency) 2. Huntington’s Disease (HD) Nature: An autosomal dominant disorder caused by mutations in the HTT gene, characterized by excessive CAG repeat expansions.
Symptoms:
Motor Symptoms: Involuntary jerking movements (chorea) Muscle rigidity and impaired coordination Difficulty swallowing and speaking Problems with walking and frequent falls Cognitive Symptoms: Memory loss and difficulty concentrating Impaired problem-solving skills Poor judgment and decision-making Progressive dementia Psychiatric Symptoms: Anxiety, depression, and mood swings Irritability and aggression Social withdrawal and apathy Psychosis or hallucinations in advanced stages Summary Mention Any Two Autosomal Genetic Disorder With Their Symptoms Both Cystic Fibrosis and Huntington's Disease present a range of debilitating symptoms affecting multiple systems in the body. CF primarily impacts the respiratory and digestive systems, while HD leads to progressive motor, cognitive, and psychiatric decline. Genetic testing plays a crucial role in diagnosis, management, and family planning for individuals affected by these disorders.
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