autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5

Autosomal Dominant Progressive External Ophthalmoplegia (adPEO) and Mitochondrial DNA Deletions

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a rare genetic disorder characterized by the accumulation of multiple large deletions of mitochondrial DNA (mtDNA) in skeletal muscle. This condition leads to weakness of the eye muscles, which is typically noticeable in adults between ages 18 and 40.

Key Features:

• Mitochondrial DNA Deletions: adPEO is caused by the accumulation of multiple large deletions of mtDNA in skeletal muscle.
• Progressive Weakness: The condition leads to progressive weakness of the eye muscles, which can affect other muscles as well.
• Age of Onset: Typically appears in adults between ages 18 and 40.

References:

• [1] - Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disease characterized by accumulation of multiple large deletions of mtDNA ...
• [5] - Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA deletions in skeletal muscle.
• [9] - Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle.

Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA deletions is a condition characterized by weakness of the eye muscles, which can lead to drooping or partial closure of one or both eyelids (ptosis). This condition typically affects adults and can also cause weakness or partial paralysis of the muscles responsible for eye movements.

Additional symptoms may include exercise intolerance, cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. The severity and progression of these symptoms can vary from person to person.

It's worth noting that adPEO with mitochondrial DNA deletions is a rare condition, and the clinical features may overlap with other conditions. A comprehensive evaluation by a healthcare professional is necessary for an accurate diagnosis and management plan.

Common signs and symptoms:

• Drooping or partial closure of one or both eyelids (ptosis)
• Weakness or partial paralysis of the muscles responsible for eye movements
• Exercise intolerance
• Cataracts
• Hearing loss
• Sensory axonal neuropathy
• Ataxia
• Depression
• Hypogonadism
• Parkinsonism

References:

• [1] - Progressive external ophthalmoplegia (PEO) · drooping or partial closure of one or both eyelids (ptosis) · weakness or partial paralysis of the muscles ...
• [6] The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and ...
• [7] The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal ...

Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA deletions is a rare genetic disorder characterized by the accumulation of multiple large deletions of mtDNA. Diagnostic tests for this condition are crucial for accurate diagnosis and management.

Diagnostic Tests:

• Molecular diagnosis of Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (DNA2 and POLG2 gene) [5]
• Clinical Genetic Test offered by Intergen for conditions (1): Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; [2, 5]
• mtDNA next-generation sequencing in blood was negative, but mutations in numerous nuclear-encoded genes cause autosomal dominant progressive external ophthalmoplegia, including POLG1 [13]

Key Points:

• Molecular diagnosis is essential for accurate diagnosis and management of adPEO with mitochondrial DNA deletions.
• Clinical genetic tests offered by Intergen can help identify the condition.
• Next-generation sequencing in blood may not be sufficient to diagnose adPEO with mitochondrial DNA deletions, as mutations in nuclear-encoded genes may also be involved.

References:

[2] Clinical Genetic Test offered by Intergen for conditions (1): Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; [5] Clinical Genetic Test offered by Intergen for conditions (1): Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; ... [13] Diagnostic test. mtDNA next-generation sequencing in blood was negative, ... Mutations in numerous nuclear-encoded genes cause autosomal dominant progressive external ophthalmoplegia, both the pure and plus forms, including POLG1, ...

Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA deletions is a rare genetic disorder that affects the muscles responsible for eye movements, leading to weakness and impaired movement. While there is no specific cure for adPEO, various treatments can help

Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA deletions is a rare genetic disorder characterized by weakness of the eye muscles, leading to ptosis and impaired eye movements. The differential diagnosis for adPEO involves considering other conditions that may present with similar symptoms.

Some possible differential diagnoses for adPEO include:

• Kearns-Sayre syndrome: a mitochondrial disease characterized by external ophthalmoplegia, pigmentary retinopathy, and heart block.
• Mitochondrial myopathies: a group of disorders caused by mutations in the mitochondrial DNA, which can lead to muscle weakness and other systemic symptoms.
• Myasthenia gravis: an autoimmune disorder that affects the nerve-muscle junction, leading to muscle weakness and fatigue.
• Chronic progressive external ophthalmoplegia (CPEO): a rare genetic disorder characterized by slow progression of eye muscle weakness.

It's worth noting that adPEO is a distinct clinical entity with specific genetic and molecular characteristics. A thorough diagnostic evaluation, including genetic testing and imaging studies, is necessary to confirm the diagnosis of adPEO.

References:

• [3] Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disease characterized by accumulation of multiple large deletions of mtDNA in patients' tissues.
• [7] PROGRESSIVE EXTERNAL ophthalmoplegia (PEO) with multiple mitochondrial DNA (mtDNA) deletions in muscle can be inherited as a dominant or a recessive trait.
• [10] Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes.