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Ragged red fiber myopathy is not all that rare, it is associated with mitochondrial disease and under a microscope is represented by mitochondria proliferation with red rim and speckled sarcoplasm. These cells cause a defect in muscle tissue. I also found this article and thought it might help.

MERRF

Long Name: Myoclonic Epilepsy and Ragged-Red Fiber Disease.

Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia.

Cause: Mitochondrial DNA point mutations: A8344G, T8356C

MERRF is a progressive multi-system syndrome usually beginning in childhood, but onset may occur in adulthood. The rate of progression varies widely. Onset and extent of symptoms can differ among affected siblings.

The classic features of MERRF include:

Myoclonus (brief, sudden, twitching muscle spasms) – the most characteristic symptom

Epileptic seizures

Ataxia (impaired coordination)

Ragged-red fibers (a characteristic microscopic abnormality observed in muscle biopsy of patients with MERRF and other mitochondrial disorders) Additional symptoms may include: hearing loss, lactic acidosis (elevated lactic acid level in the blood), short stature, exercise intolerance, dementia, cardiac defects, eye abnormalities, and speech impairment.

Although a few cases of MERRF are sporadic, most cases are maternally inherited due to a mutation within the mitochondria. The most common MERRF mutation is A8344G, which accounted for over 80% of the cases (GeneReview article). Four other mitochondrial DNA mutations have been reported to cause MERRF. While a mother will transmit her MERRF mutation to all of her offspring, some may never display symptoms.

As with all mitochondrial disorders, there is no cure for MERRF. Therapies may include coenzyme Q10, L-carnitine, and various vitamins, often in a “cocktail” combination. Management of seizures usually requires anticonvulsant drugs. Medications for control of other symptoms may also be necessary.

The prognosis for MERRF varies widely depending on age of onset, type and severity of symptoms, organs involved, and other factors.

Sources: Dr. Rolf Luft; The development of mitochondrial medicine. [Review] ; Proceedings of the National Academy of Sciences of the United States of America ; 1994 ; 91(19) ; 8731-8 & DiMauro Link

Take care and stay safe,

Todd

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Posted
ok

Healthy (that was easy).

Lactic Acidemia

Not a dairy school, but a way of saying lactacidemia when you're being paid by the word, and it means mildly/moderately excessive blood levels of lactic acid.

Now then, the traditional hexakosioihexekontahexaphobia (which is sick, sick, sick).

Posted

Healthy (that was easy).

Not a dairy school, but a way of saying lactacidemia when you're being paid by the word, and it means mildly/moderately excessive blood levels of lactic acid.

Now then, the traditional hexakosioihexekontahexaphobia (which is sick, sick, sick).

I like the term elevated lactate better. Now, hexa... is fear of the number 666.

accomodation (in reguards to pupils)

In an earlier post, someone asked about LGL, there is also another definition besides what was given

Posted
accomodation

That's a test that I would fail! Focusing the lens of the eye to view objects close up, etc, i.e. accommodation testing.

Lown-Ganong-Levine

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