Mitochondrial myopathy with lactic acidosis

Overview

Mitochondrial myopathy - lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.

Symptoms

The list of signs and symptoms mentioned in various sources for Mitochondrial myopathy - lactic acidosis includes the 11 symptoms listed below:

  • Muscle wasting
  • Deafness
  • Metabolic disorder
  • Lactic acidosis
  • Short stature
  • Seizures
  • Retarded growth
  • Muscle weakness
  • Increased blood alanine level
  • Increased urine alanine level
  • Increased blood pyruvate level

Note that Mitochondrial myopathy - lactic acidosis symptoms usually refers to various symptoms known to a patient, but the phrase Mitochondrial myopathy - lactic acidosis signs may refer to those signs only noticable by a doctor.

Causes

Mitochondrial myopathy-lactic acidosis is caused by mutations in the genes in mitochondrial DNA.

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Mitochondrial myopathy - lactic acidosis. This medical information about signs and symptoms for Mitochondrial myopathy - lactic acidosis has been gathered from various sources, may not be fully accurate, and may not be the full list of Mitochondrial myopathy - lactic acidosis signs or Mitochondrial myopathy - lactic acidosis symptoms. Furthermore, signs and symptoms of Mitochondrial myopathy - lactic acidosis may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Mitochondrial myopathy - lactic acidosis symptoms.

Prognosis

There is no known treatment for the underlying disease, which is progressive and fatal. Patients are managed according to what areas of the body are affected at a particular time. Enzymesamino acidsantioxidants and vitamins have been used, but there have been no consistent successes reported.

Treatment

Although there have been no controlled trials on long-term benefits of dietary manipulations, the following supplements have shown promise and given hope to the patients.

  • CoQ10 has been helpful for some MELAS patients. Nicotinamide has been used because complex l accepts electrons from NADH and ultimately transfers electrons to CoQ10.
  • Riboflavin has been reported to improve the function of a patient with complex l deficiency and the 3250T-C mutation.
  • The administration of L-arginine during the acute and interictal periods may represent a potential new therapy for this syndrome to reduce brain damage due to impairment of vasodilation in intracerebral arteries due to nitric oxide depletion.
  • There is also a case report where succinate was successfully used to treat uncontrolled convulsions in MELAS patients, although this treatment modality is yet to be thoroughly investigated or widely recommended.