Primary mitochondrial disorders
Updates to Article Attributes
There are numerous mitochondrial disorders that affect the neurological and muscular systems in a variety of ways:
- Kearns-Sayre syndrome
- Leigh syndrome
- mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)
- myoclonus epilepsy with ragged red fibres (MERRF)
- mitochondrial deletion syndromes, e.g. POLG-related disorders
-
trichopoliodystrophy (also known as Menkes disease)
)
Pathology
As spermatozoa are deficient of mitochondria, these diseases are only inherited from the mother. The genes are located in mitochondrial DNA (mtDNA) of which there is a degree toof heterogeneity within the one individual: not all mitochondria share the same genetic material. The percentage of affected mitochondria will dictate the degree to which the disease is clinically manifested 1.
Radiographic features
The findings are variable ranging from specific findings (uncommon), non-specific abnormalities (most common) as well as normal appearing studies 5. Findings are discussed separately for each condition listed above but as a general rule of thumb bilateral deep grey matter involvement and peripheral white matter delayed myelination in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on MRS.
-<li><a href="/articles/mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes">mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)</a></li>-<li><a href="/articles/myoclonic-epilepsy-with-red-ragged-fibres-1">myoclonus epilepsy with ragged red fibres (MERRF)</a></li>- +<li><a href="/articles/mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas">mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS)</a></li>
- +<li><a href="/articles/myoclonic-epilepsy-with-red-ragged-fibres-merrf-1">myoclonus epilepsy with ragged red fibres (MERRF)</a></li>
-<li>-<a href="/articles/menkes-disease-1">trichopoliodystrophy</a> (also known as <a href="/articles/menkes-disease">Menkes disease</a>)</li>-</ul><h4>Pathology</h4><p>As spermatozoa are deficient of mitochondria, these diseases are only inherited from the mother. The genes are located in mitochondrial DNA (mtDNA) of which there is a degree to heterogeneity within the one individual: not all mitochondria share the same genetic material. The percentage of affected mitochondria will dictate the degree to which the disease is clinically manifested <sup>1</sup>.</p><h4>Radiographic features</h4><p>The findings are variable ranging from specific findings (uncommon), non-specific abnormalities (most common) as well as normal appearing studies <sup>5</sup>. Findings are discussed separately for each condition listed above but as a general rule of thumb bilateral deep grey matter involvement and peripheral white matter delayed myelination in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on <a href="/articles/mrs">MRS</a>.</p>- +<li><a title="Trichopoliodystrophy" href="/articles/menkes-disease-1">trichopoliodystrophy (also known as Menkes disease)</a></li>
- +</ul><h4>Pathology</h4><p>As spermatozoa are deficient of mitochondria, these diseases are only inherited from the mother. The genes are located in mitochondrial DNA (mtDNA) of which there is a degree of heterogeneity within the one individual: not all mitochondria share the same genetic material. The percentage of affected mitochondria will dictate the degree to which the disease is clinically manifested <sup>1</sup>.</p><h4>Radiographic features</h4><p>The findings are variable ranging from specific findings (uncommon), non-specific abnormalities (most common) as well as normal appearing studies <sup>5</sup>. Findings are discussed separately for each condition listed above but as a general rule of thumb bilateral deep grey matter involvement and peripheral white matter delayed myelination in young adults or children should suggest the diagnosis. This is especially the case if associated with an elevated lactate level on <a href="/articles/mrs">MRS</a>.</p>
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