MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke like syndrome) Disease

About Gene:

Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke like syndrome (MELAS) is rare neurodegenerative disorder which is inherited from maternal side. The mode of inheritance is mitochondrial and it causes negative impact on skeletal muscle and elevates blood lactate. In addition to that, multiple organs are involved in MELAS such as CNS, skeletal muscle, eye, cardiac muscle, gastrointestinal system and renal system. MELAS occurs during childhood with the symptoms of short stature, seizure disorder, hearing loss, lactic acidosis and diabetes mellitus.

Number of Patients: 0

Disease Causing Genes:

MT-ND5; mitochondrially encoded NADH dehydrogenase POLG-DNA polymerase gamma, catalytic subunit ASNS; asparagine synthetase (glutamine-hydrolyzing MT-TL1; mitochondrially encoded tRNA leucine 1 (UU MT-ND1;mitochondrially encoded NADH dehydrogenase DDIT3; DNA damage inducible transcript 3

Sign and Symptoms:

  1. Dawrfism
  2. Seizure Disorder
  3. Diabetes Meliatus
  4. Hearing Loss
  5. Abnormal thinking (dementia).
  6. temporary local paralysis
  7. Brain dysfunction

Diagnosis:

There is no specific diagnosis for this syndrome. There is involvement of several disciplines such as neurologist, cardiologist, endocrinologist, audiologist, ophthalmologist.

Preventions:

There are no specific preventions for this syndrome although it is considered for early identification for this disease.

Treatment:

There is no curative treatment for this syndrome.