Mention Any Two Autosomal Genetic Disorder With Their Symptoms

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. 2024-11-6 18:42 

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