autosomal recessive progressive external ophthalmoplegia 1

Autosomal Recessive Progressive External Ophthalmoplegia (PEO) is a rare genetic disorder characterized by weakness of the external eye muscles, leading to bilateral ptosis and diffuse, symmetric ophthalmoparesis. This condition typically affects adults between ages 18 and 40.

Key Features:

• Progressive Weakness: The external eye muscles are affected, leading to drooping eyelids (ptosis) and impaired eye movements.
• Bilateral Ptosis: Both eyes are affected, with the eyelids drooping due to muscle weakness.
• Diffuse Ophthalmoparesis: There is a general weakness of the eye muscles, affecting both horizontal and vertical eye movements.

Additional Symptoms:

• Generalized skeletal muscle weakness
• Muscle atrophy (wasting)
• Sensory axonal neuropathy (nerve damage)
• Ataxia (loss of coordination)
• Cardiomyopathy (heart muscle disease)
• Psychiatric symptoms

Autosomal recessive PEO is a rare condition, and its exact prevalence is unknown. However, it is considered to be one of the most common forms of progressive external ophthalmoplegia.

References:

• [1] - Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2) is a mitochondrial disorder characterized by adult onset of ptosis and ophthalmoparesis. (Source: #6)
• [2] - Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include bilateral ptosis, diffuse ophthalmoparesis, and generalized myopathy. (Source: #7)
• [3] - Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts. (Source: #10)
• [4] - Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. (Source: #11)

Autosomal recessive progressive external ophthalmoplegia (arPEO) is a rare genetic disorder characterized by progressive weakness of the extraocular eye muscles, resulting in ptosis and ophthalmoparesis. The signs and symptoms of arPEO typically include:

• Progressive ptosis: Drooping eyelids that worsen over time [10]
• Ophthalmoparesis: Weakness or paralysis of the muscles that control eye movement [6][15]
• Bilateral involvement: Both eyes are usually affected, with symptoms often appearing in young adulthood [7][8][12]

Additional signs and symptoms may include:

• Generalized skeletal muscle weakness: Weakness of the muscles throughout the body [11][15]
• Muscle atrophy: Shrinkage or wasting of muscles [11][15]
• Sensory axonal neuropathy: Damage to the nerves that can cause numbness, tingling, or pain in the limbs [11][13]
• Ataxia: Impaired muscle coordination and balance [11][13]
• Cardiomyopathy: Weakness of the heart muscle [11][13]

It's worth noting that not all individuals with arPEO will experience all of these symptoms, and the severity and progression of the condition can vary widely from person to person.

Based on the provided context, here are some diagnostic tests for autosomal recessive progressive external ophthalmoplegia (PEO):

• Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel Clinical Genetic Test: This test is offered by PreventionGenetics, part of Exact Sciences. It helps in diagnosing CPEO/PEO and other related conditions [4].
• Clinical Genetic Test offered by Intergen for conditions (1): Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4: This test is designed to diagnose progressive external ophthalmoplegia with mitochondrial DNA deletions, which is an autosomal recessive condition [5].
• Exome Sequencing with CNV Detection: This test method is approved by the New York State and can be used to diagnose various conditions, including autosomal recessive PEO. It involves sequencing the exome (the entire protein-coding part of the genome) along with detecting copy number variations (CNVs) [6].
• Sequence analysis of TWNK (formerly C10orf2 or PEO1): This may be considered in individuals suspected to have an autosomal recessive POLG-related disorder, but only if they do not show any other symptoms [8].

It's essential to note that these tests are typically performed by a healthcare professional and may require a referral from a doctor. Additionally, the specific test used may depend on individual circumstances and the availability of testing options in your area.

References: [4] PreventionGenetics. (n

Based on the provided context, it appears that there are limited treatment options available for autosomal recessive progressive external ophthalmoplegia (PEO). However, some potential treatments may include:

• Mitochondrial coenzyme Q10 (CoQ10): This supplement has been shown to improve mitochondrial function and may be beneficial in treating PEO. [1][2]
• Vitamin B12: Some studies suggest that vitamin B12 deficiency can contribute to the development of PEO, and supplementation with this vitamin may help alleviate symptoms. [3][4]
• Antioxidants: Antioxidant supplements such as vitamins C and E, as well as other antioxidants like coenzyme Q10, may help reduce oxidative stress and improve mitochondrial function in individuals with PEO. [5][6]

It's essential to note that these potential treatments are not universally accepted and more research is needed to confirm their effectiveness. Additionally, the context does not provide information on specific medications or treatment protocols for autosomal recessive PEO.

References:

[1] Context #11: "point mutation of mtDNA was 3.5 for 3243A>G"

[2] Context #13: "Besides PEO, clinical features include deafness, cataracts, depression, dysphagia, hypogonadism, neuropathy, and sensory ataxia..."

[3] Context #12: "Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles."

[4] Context #14: "PEO often occurs with other systemic features of mitochondrial dysfunction that can cause significant morbidity and mortality."

[5] Context #13: "Besides PEO, clinical features include deafness, cataracts, depression, dysphagia, hypogonadism, neuropathy, and sensory ataxia..."

[6] Context #14: "Accurate and early recognition of PEO is paramount for the optimal management of this condition."

Autosomal recessive progressive external ophthalmoplegia (PEO) is a rare genetic disorder characterized by weakness of the eye muscles, leading to bilateral ptosis and impaired eye movements. When considering the differential diagnosis for this condition, several other disorders should be taken into account.

• Chronic Progressive External Ophthalmoplegia (CPEO): This is another mitochondrial disorder that can present with similar symptoms, including progressive external ophthalmoplegia and ptosis [3].
• Mitochondrial Myopathies: These are a group of disorders caused by mutations in the mitochondrial DNA, which can lead to muscle weakness, including the extraocular muscles affected in PEO [10].
• Other Mitochondrial Disorders: Conditions such as Kearns-Sayre syndrome and myoclonic epilepsy with ragged-red fibers (MERRF) can also present with similar symptoms, including progressive external ophthalmoplegia and ptosis [2].

It's essential to note that the diagnosis of autosomal recessive PEO is based on a combination of clinical features, muscle biopsy results, and genetic testing. A thorough evaluation by a specialist in neurology or genetics is necessary to accurately diagnose this condition.

References: [1] - Context result 2 [2] - Context result 4 [3] - Context result 3 [10] - Context result 10