mitochondrial complex III deficiency nuclear type 2

Mitochondrial complex III deficiency nuclear type 2 is a severe neurodegenerative disorder that typically presents in childhood.

• It is an autosomal recessive condition, meaning that it occurs when a child inherits two copies of the mutated gene, one from each parent [1].
• The clinical features of this condition include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, and muscle weakness [3].
• It is characterized by a range of symptoms that can vary in severity and impact different parts of the body, including the brain, kidneys, liver, heart, and skeletal muscles [2][5].
• This condition usually presents in childhood but may show varying degrees of severity and progression over time [6][7].

Mitochondrial complex III deficiency nuclear type 2 is a rare and severe genetic disorder that affects the energy-producing structures within cells. It is essential to note that this information is based on the search results provided, and further research or medical consultation would be necessary for an accurate diagnosis and treatment plan.

References: [1] - Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood. [2] - Apr 1, 2014 — Mitochondrial complex III deficiency is a genetic condition that can affect the brain, kidneys, liver, heart, and skeletal muscles. [3] - Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle ... [5] - Apr 1, 2014 — Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, ... [6] - Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show ... [7] - Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, ...

Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that typically presents in childhood, but may show later onset, even in adulthood [2]. The condition is characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain [7].

Some of the common signs and symptoms of mitochondrial complex III deficiency nuclear type 2 include:

• Motor disability: Affected individuals may experience difficulty with coordination, balance, and movement, leading to ataxia, apraxia, dystonia, and dysarthria.
• Necrotic lesions throughout the brain: These lesions can cause a range of neurological symptoms, including seizures, muscle weakness, and cognitive impairment.
• Cognitive impairment: Individuals with mitochondrial complex III deficiency nuclear type 2 may experience difficulties with learning, memory, and problem-solving.
• Axonal neuropathy: This condition affects the nerve cells in the body, leading to numbness, tingling, or pain in the hands and feet.

It's worth noting that the severity of mitochondrial complex III deficiency nuclear type 2 can vary greatly from person to person, even within the same family [5]. Some individuals may experience mild symptoms, while others may have more severe manifestations of the condition.

Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, and diagnostic tests are crucial for its identification.

• Molecular Genetics Tests: Deletion/duplication analysis (20) can be used to identify genetic mutations associated with mitochondrial complex III deficiency nuclear type 2 [3].
• Clinical tests: A total of 38 clinical tests are available in the database for this condition, including molecular genetics tests such as deletion/duplication analysis [2].
• The Invitae Nuclear Mitochondrial Disorders Panel analyzes nuclear-encoded genes that are associated with mitochondrial dysfunction, which can be used to diagnose mitochondrial complex III deficiency nuclear type 2 [5].

It's worth noting that the diagnosis of mitochondrial complex III deficiency nuclear type 2 is a complex process and may involve multiple tests. A comprehensive diagnostic approach should be taken to ensure accurate identification of this condition.

References: [1] Not applicable [2] Available tests for Mitochondrial complex III deficiency (context #2) [3] Mitochondrial complex III deficiency nuclear type 2 (context #3) [5] The Invitae Nuclear Mitochondrial Disorders Panel (context #5)

Current Treatment Options for Mitochondrial Complex III Deficiency Nuclear Type 2

Mitochondrial complex III deficiency nuclear type 2 is a severe neurodegenerative disorder that affects the brain and other parts of the body. While there are no specific treatments available to cure this condition, various medications and therapies have been explored to manage its symptoms.

• Dietary Supplements: Dietary supplements such as vitamins, minerals, and antioxidants may be prescribed to help alleviate some symptoms associated with mitochondrial complex III deficiency nuclear type 2.
• Off-Label Use of Drugs: Some medications approved for other indications may be used off-label to treat the symptoms of this condition. However, their effectiveness can vary from person to person.
• Supportive and Symptomatic Therapies: The primary treatment approach for mitochondrial complex III deficiency nuclear type 2 is supportive and symptomatic therapy. This involves managing the symptoms and complications associated with the condition.

References

• [4] by O Hurko · 2013 · Cited by 14 — Currently, all treatment of mitochondrial disorders is performed with dietary supplements or by off-label use of drugs approved for other indications.
• [9] by O Hurko · 2013 · Cited by 14 — Currently, all treatment of mitochondrial disorders is performed with dietary supplements or by off-label use of drugs approved for other indications.

Mitochondrial complex III deficiency nuclear type 2 (MCIIID) is a rare and severe neurodegenerative disorder that typically presents in childhood, but may show later onset even in adulthood [4][5]. The differential diagnosis for MCIIID involves considering other conditions that present with similar symptoms.

Some of the key features to consider when differentiating MCIIID from other conditions include:

• Motor disability: Affected individuals often have motor disability, including ataxia, apraxia, dystonia, and dysarthria [4][5].
• Necrotic lesions throughout the brain: MCIIID is characterized by necrotic lesions throughout the brain, which can be a distinguishing feature from other conditions [4][5].
• Autosomal recessive inheritance pattern: MCIIID is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations [3].

Other conditions that may need to be considered in the differential diagnosis for MCIIID include:

• Mitochondrial complex III deficiency: This condition can present with similar symptoms to MCIIID, but it is typically caused by a mutation in the BCS1L gene [6].
• Cerebral folate deficiency: This condition can also present with neurologic and metabolic disorders, including mitochondrial disease [15].

To make an accurate diagnosis of MCIIID, it is essential to consider the patient's medical history, physical examination findings, laboratory results, and genetic testing. A comprehensive diagnostic approach that includes whole exome sequencing (WES) or whole genome sequencing (WGS) may be necessary to confirm the diagnosis [12][13].

References:

[3] Mitochondrial complex III deficiency is usually inherited in an autosomal recessive pattern.

[4] Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain.

[5] Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain.

[6] A mutation in BCS1L (type 1) is the most common variant of mitochondrial complex III deficiency.

[12] Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups of inherited diseases. The vast phenotypic overlap with other disease entities together with the absence of reliable biomarkers act as driving forces for the integration of unbiased methodologies early in the diagnostic algorithm, such as whole exome sequencing (WES) and whole genome sequencing (WGS).

[13] Defects in any of these constituents can be the cause of mitochondrial disease. 2 Within the cases of mitochondrial disease, complex III (cIII) deficiency is the least frequently diagnosed, 2, 3 possibly because of its heterogeneous clinical presentation and lack of specific histochemical assays.