Which are the symptoms of MELAS Syndrome?
See the worst symptoms of affected by MELAS Syndrome here
MELAS syndrome, which stands for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a rare genetic disorder that affects the mitochondria, the energy-producing structures within cells. This condition primarily affects the nervous system and can lead to a wide range of symptoms that vary in severity from person to person.
1. Stroke-like episodes: One of the hallmark symptoms of MELAS syndrome is the occurrence of stroke-like episodes, which can happen at any age. These episodes typically involve temporary neurological deficits, such as weakness or paralysis on one side of the body, vision or speech problems, and seizures. These episodes can last for hours or even days and may recur over time.
2. Muscle weakness and exercise intolerance: MELAS syndrome often leads to muscle weakness, particularly in the arms and legs. This weakness can make it difficult to perform everyday activities and may worsen with physical exertion. Individuals with MELAS syndrome may also experience exercise intolerance, meaning they tire easily during physical activity.
3. Mitochondrial myopathy: MELAS syndrome can cause mitochondrial myopathy, which is characterized by muscle pain, fatigue, and weakness. These symptoms can affect various muscle groups, including those in the face, neck, and limbs. Mitochondrial myopathy can contribute to difficulties with mobility and coordination.
4. Neurological symptoms: Individuals with MELAS syndrome may experience a range of neurological symptoms, including seizures, migraines, ataxia (unsteady gait), tremors, and dementia. These symptoms can significantly impact daily functioning and quality of life.
5. Lactic acidosis: Lactic acidosis is a condition characterized by the buildup of lactic acid in the body. In MELAS syndrome, impaired mitochondrial function leads to the accumulation of lactic acid, resulting in symptoms such as nausea, vomiting, abdominal pain, rapid breathing, and fatigue.
6. Hearing loss and vision problems: Some individuals with MELAS syndrome may experience hearing loss, which can range from mild to severe. Vision problems are also common and can include blurred vision, visual field defects, and optic atrophy (damage to the optic nerve).
7. Growth and developmental delays: MELAS syndrome can affect growth and development in children. Delayed milestones, such as delayed walking or talking, may be observed. Additionally, individuals with MELAS syndrome may have short stature and experience difficulties with weight gain.
8. Cardiac abnormalities: In some cases, MELAS syndrome can lead to cardiac abnormalities, including arrhythmias (irregular heart rhythms) and cardiomyopathy (weakening of the heart muscle). These cardiac complications can pose significant health risks and require appropriate monitoring and management.
9. Other symptoms: MELAS syndrome can also present with a range of other symptoms, such as gastrointestinal issues (e.g., constipation), respiratory problems, diabetes, hormonal imbalances, and kidney problems.
It is important to note that the symptoms of MELAS syndrome can vary widely among individuals, and not all affected individuals will experience every symptom mentioned above. The age of symptom onset, their progression, and their severity can also differ from person to person.
If you suspect that you or a loved one may have MELAS syndrome, it is crucial to consult with a healthcare professional for a comprehensive evaluation and diagnosis. Genetic testing and other diagnostic procedures can help confirm the presence of MELAS syndrome and guide appropriate management strategies.
Symptoms: Short statue, seizures, stroke-like episodes with focused neurological deficits, recurrent headaches, cognitive regression, disease progression, ragged-red fibers
MELAS – Mitochondrial Myopathy (muscle weakness), Encephalopathy (brain and central nervous system disease), Lactic Acidosis (buildup of a cell waste product), and Stroke-like Episodes (partial paralysis, partial vision loss, or other neurological abnormalities).
MELAS is a progressive neurodegenerative disorder with typical onset between the ages of 2 and 15, although it may occur in infancy or as late as adulthood. Initial symptoms may include stroke-like episodes, seizures, migraine headaches, and recurrent vomiting.
Usually, the patient appears normal during infancy, although short stature is common. Less common are early infancy symptoms that may include developmental delay, learning disabilities or attention-deficit disorder. Exercise intolerance, limb weakness, hearing loss, and diabetes may also precede the occurrence of the stroke-like episodes.
Stroke-like episodes, often accompanied by seizures, are the hallmark symptom of MELAS and cause partial paralysis, loss of vision, and focal neurological defects. The gradual cumulative effects of these episodes often result in variable combinations of loss of motor skills (speech, movement, and eating), impaired sensation (vision loss and loss of body sensations), and mental impairment (dementia). MELAS patients may also suffer additional symptoms including: muscle weakness, peripheral nerve dysfunction, diabetes, hearing loss, cardiac and kidney problems, and digestive abnormalities. Lactic acid usually accumulates at high levels in the blood, cerebrospinal fluid, or both.
MELAS is maternally inherited due to a defect in the DNA within mitochondria. There are at least 17 different mutations that can cause MELAS. By far the most prevalent is the A3243G mutation, which is responsible for about 80% of the cases. The incidence is unknown, although the epidemiological studies of the MELAS-3243 mtDNA mutation have estimated the prevalence to be 1-16/100,000 in the adult population.
The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. Death may come as a result of general body wasting due to progressive dementia and muscle weakness, or complications from other affected organs such as heart or kidneys.
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