mtDNA-associated Leigh syndrome affects the brain of afflicted indiv.pdf

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mtDNA-associated Leigh syndrome affects the brain and has an infantile onset, causing severe symptoms. NARP has less severe symptoms that onset in childhood, affecting the nervous system, muscles, and vision. The same mtDNA mutation can cause both diseases, and the differences in age of onset and severity can be explained by how the mutation affects the body over time.

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mtDNA-associated Leigh syndrome affects the brain of afflicted individuals and has an infantile
onset. NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) has less severe
symptoms with an onset in childhood. The same mtDNA mutation can cause both of these
diseases. How can these differences in disease presentation, severity, and age of onset be
explained for these two diseases?
Solution
Answer:
Leigh syndrome:
Symptoms are usually observed in infants, some individuals donot develoop symptoms until they
become adult.
1) Severe neurological disorder
2) Psychomotor regression is observed
3) Dysphagia, vomiting and diarrhea are the symptoms observed.
4) involuntary muscle contractions,peripheral neuropathy and ataxia are common in this people.
5) hypertrophic cardiomyopathy
II) NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa)
This condition is observed in early childhood
1) It effects nervous system
2) Severe pain in arms and legs
3) Muscle weakness
4) Loss of vision, due to deterioration of retina
5) Dementia, loss in hearing, seizures and cardiac defects

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