autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Autosomal Recessive Progressive External Ophthalmoplegia (PEO) with Mitochondrial DNA Deletions is a rare condition characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of progressive external ophthalmoplegia, exercise intolerance, and signs and symptoms of spinocerebellar ataxia.

Some of the key features of this condition include:

• Adult onset of weakness of the external eye muscles
• Exercise intolerance
• Muscle weakness
• Signs and symptoms of spinocerebellar ataxia, such as impaired coordination and balance

This condition is caused by mutations in the mitochondrial DNA, which are inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

It's worth noting that this condition is extremely rare and affects a small number of people worldwide. The exact prevalence of Autosomal Recessive PEO with Mitochondrial DNA Deletions is not well established, but it is considered to be one of the rarer forms of mitochondrial disease.

References:

• [3] describes the condition as characterized by adult-onset of weakness of the external eye muscles and exercise intolerance.
• [2] mentions that Autosomal Recessive PEO with Mitochondrial DNA deletions-2 (PEOB2) is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia.

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is a rare condition characterized by a combination of symptoms. The most common signs and symptoms include:

• Muscle weakness: Progressive muscle weakness, particularly in the external eye muscles, leading to ptosis (drooping eyelids) and impaired eye movements.
• Exercise intolerance: Difficulty performing physical activities due to muscle fatigue and weakness.
• Spinocerebellar ataxia: Impaired gait and dysarthria (speech difficulties), indicating involvement of the cerebellum.
• Cataracts: Clouding of the lens in one or both eyes, affecting vision.
• Hearing loss: Gradual decline in hearing ability.
• Sensory axonal neuropathy: Damage to the peripheral nerves, leading to numbness, tingling, and weakness in the limbs.
• Depression: Emotional distress and mood changes.

These symptoms can vary in severity and may be accompanied by other signs of mitochondrial dysfunction. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References:

[3] - Characterizes PEOB2 patients manifesting exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia. [8] - Lists cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism as other symptoms that may be present in this condition. [14] - Mentions adult-onset weakness of the external eye muscles and exercise intolerance as common clinical features.

Based on the search results, here are some diagnostic tests that may be relevant for autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4:

• Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA) [1]
• Southern blot analysis and PCR showed multiple mtDNA deletions in skeletal muscle of all affected family members, but not in lymphocytes or fibroblasts. The mtDNA deletions appeared to increase with time and correlated with disease severity. [15]

Additionally, genetic sequencing is the gold standard for diagnosing mitochondrial encephalomyopathies, preceded by non-invasive tests such as fibroblast growth factor-21 and growth differentiation factor-15. [11] However, it's not clear if these tests are specifically relevant for autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4.

It's worth noting that there may be other diagnostic tests available for this condition, but the information provided in the search results is limited. If you would like me to search again or provide more information on a specific test, please let me know!

Based on the search results, it appears that there are limited treatment options available for autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2).

However, some potential treatments that may be considered include:

• Physical and occupational therapy: This can help address muscle weakness and other symptoms associated with PEOB2. [7]
• Surgery or special glasses: In some cases, surgery or special glasses may be needed to correct drooping eyelids (ptosis) or other eye-related problems. [7]

It's essential to note that these treatments are not specific to autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 and may also be beneficial for other forms of PEO.

Unfortunately, there is no specific treatment mentioned in the search results that targets the underlying mitochondrial DNA deletions causing PEOB2. As a result, the condition often progresses over time, and symptoms can worsen.

It's crucial to consult with a healthcare professional for personalized advice and guidance on managing this rare disorder. They may recommend additional treatments or therapies not listed here.

References:

[7] -

Autosomal recessive progressive external ophthalmoplegia (arPEO) with mitochondrial DNA deletions is a rare and severe form of PEO, characterized by ptosis, proximal muscle weakness, bulbar dysfunction, and gastrointestinal symptoms. The differential diagnosis for arPEO includes other mitochondrial diseases, such as Kearns-Sayre syndrome, MNGIE-like syndrome, and chronic progressive external ophthalmoplegia (CPEO).

Key features to consider:

• Genetic testing: Genetic testing is essential in diagnosing arPEO, as it can confirm the presence of mutations in the RRM2B gene.
• Clinical presentation: The clinical presentation of arPEO includes ptosis, proximal muscle weakness, bulbar dysfunction, and gastrointestinal symptoms. These symptoms may be similar to those seen in other mitochondrial diseases.
• Mitochondrial DNA deletions: Mitochondrial DNA deletions are a hallmark of arPEO, and can be detected through genetic testing.

Differential diagnosis:

• Kearns-Sayre syndrome: Kearns-Sayre syndrome is a rare mitochondrial disease characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction system abnormalities.
• MNGIE-like syndrome: MNGIE-like syndrome is a rare mitochondrial disease characterized by progressive external ophthalmoplegia, gastrointestinal symptoms, and other systemic features.
• Chronic progressive external ophthalmoplegia (CPEO): CPEO is the most common manifestation