autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2) is a rare condition that affects the eye muscles and other parts of the body. It is characterized by weakness of the eye muscles, which can lead to symptoms such as:

• Weakness or paralysis of the eye muscles
• Difficulty moving the eyes in different directions
• Double vision (diplopia)
• Ptosis (drooping eyelids)

This condition typically appears in adults between ages 18 and 40. The exact cause of PEOB2 is not fully understood, but it is believed to be related to mutations in the mitochondrial DNA.

PEOB2 is a type of mitochondrial disorder, which means that it affects the mitochondria, the energy-producing structures within cells. Mitochondrial disorders can affect any part of the body and can have a wide range of symptoms.

Some common features of PEOB2 include:

• Slowly progressive ptosis
• Intermittent double vision
• Cardiac arrhythmias (abnormal heart rhythms)
• Exercise intolerance
• Proximal limb and neck muscle weakness

It's worth noting that PEOB2 is a rare condition, and more research is needed to fully understand its causes and effects.

References:

• [3] Description. Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2) is a mitochondrial disorder characterized ...
• [9] PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, ...

Autosomal recessive progressive external ophthalmoplegia 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.

Common Signs and Symptoms:

• Progressive external ophthalmoplegia (PEO): This refers to the gradual weakening of the eye muscles, leading to ptosis (drooping eyelids) and impaired eye movements.
• Exercise intolerance: Individuals with PEOB2 may experience shortness of breath, fatigue, or muscle weakness during physical activity.
• Muscle weakness: Weakness in the proximal muscles (those closest to the trunk of the body) is a common symptom.
• Spinocerebellar ataxia symptoms:
  • Impaired gait: Difficulty walking or maintaining balance.
  • Dysarthria: Slurred speech or difficulty articulating words.

Additional Symptoms:

• Ptosis and impaired eye movements
• Muscle wasting or weakness in the arms and legs
• Decreased reflexes
• Sensory disturbances, such as numbness or tingling in the hands and feet

These symptoms can vary in severity and may progress over time. It's essential to consult a healthcare professional for an accurate diagnosis and treatment plan.

References: [12] - Autosomal recessive progressive external ophthalmoplegia 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, such as impaired gait and dysarthria.

Based on the search results, here are some diagnostic tests for autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2):

• Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA) [1]
• Clinical tests (27 available), including molecular genetics tests, which can be used to diagnose PEOB2 [4]

These diagnostic tests can help identify the genetic mutations responsible for PEOB2 and provide a definitive diagnosis.

Additionally, a clinical resource is available that provides information on PEOB2, including its clinical features, available genetic tests from US labs, and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, and PharmGKB [10]

It's worth noting that the diagnosis of PEOB2 can be challenging, and a combination of clinical evaluation, molecular genetics testing, and other diagnostic tests may be necessary to confirm the diagnosis.

References:

[1] Methods (1): Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA) [4] 27 tests are in the database for this condition. Check Related conditions for additional relevant tests. [10] Clinical resource with information about Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 5 and its clinical features, RRM2B, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB

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

According to search result [4], RRM2B mitochondrial DNA maintenance defects should be suspected in individuals with suggestive findings of the two common phenotypes. However, this does not provide information on drug treatment.

Search result [8] mentions that CPEO is a common presentation of mitochondrial encephalomyopathies, which can result from alterations in mitochondrial or nuclear DNA. Again, no specific information on drug treatment for autosomal recessive PEO with mitochondrial DNA deletions 2 is provided.

However, search result [9] states that Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al ...). This suggests that the condition may be treated symptomatically, but no specific drug treatment options are mentioned.

Unfortunately, it appears that there is limited information available on the drug treatment of autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2. However, based on the search results, it seems that the condition may be treated symptomatically, and further research would be needed to determine specific drug treatment options.

Possible Treatment Options:

• Symptomatic treatment for muscle weakness and exercise intolerance
• No specific drug treatment options mentioned in the search results

References:

[4] AZ Lim · 2021 · Cited by 11 — RRM2B mitochondrial DNA maintenance defects should be suspected in individuals with suggestive findings of the two common phenotypes. [8] A Ali · 2024 · Cited by 2 — CPEO is a common presentation of mitochondrial encephalomyopathies, which can result from alterations in mitochondrial or nuclear DNA. [9] Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al ...).

Autosomal recessive progressive external ophthalmoplegia (arPEO) with mitochondrial DNA deletions is a rare and severe form of mitochondrial disease. The differential diagnosis for arPEO involves considering other conditions that may present with similar clinical features.

Key Features to Consider:

• Muscle weakness: arPEO typically presents with progressive muscle weakness, particularly in the proximal muscles.
• Ptosis: Bilateral ptosis is a common feature of arPEO.
• Bulbar dysfunction: Some patients may experience bulbar dysfunction, including difficulty swallowing and speaking.
• Gastrointestinal symptoms: Gastrointestinal symptoms, such as diarrhea and abdominal pain, are also possible.

Differential Diagnosis:

• Chronic progressive external ophthalmoplegia (CPEO): CPEO is a milder form of mitochondrial disease that may present with similar clinical features to arPEO.
• Kearns-Sayre syndrome: Kearns-Sayre syndrome is another mitochondrial disease characterized by progressive external ophthalmoplegia, pigmentary retinopathy, and heart block.
• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): MNGIE is a rare mitochondrial disease that may present with gastrointestinal symptoms, muscle weakness, and neurological features.

Important Considerations:

• Genetic testing: Genetic testing for mutations in the RRM2B gene can confirm the diagnosis of arPEO.
• Clinical evaluation: A thorough clinical evaluation by a specialist in mitochondrial diseases is essential to rule out other conditions that may present with similar symptoms.

According to [1], autosomal recessive progressive external ophthalmoplegia (arPEO) with mitochondrial DNA deletions is characterized by a typically childhood-onset predominantly myopathic phenotype of PEO, ptosis, proximal muscle weakness, and bulbar dysfunction. This condition is often associated with gastrointestinal symptoms and may be inherited in an autosomal recessive manner.

References:

[1] Autosomal recessive progressive external ophthalmoplegia (arPEO) with mitochondrial DNA deletions 2