Question: What is (are) Multiple mitochondrial dysfunctions syndrome ?
Answer: Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe condition that affects the energy-producing structures of cells (called the mitochondria). Signs and symptoms of this condition generally develop early in life and may include encephalopathy, hypotonia (poor muscle tone), seizures, developmental delay, failure to thrive, lactic acidosis and a variety of other health problems. Due to the severity of the condition, most affected babies do not live past infancy. MMDS can be caused by changes (mutations) in the NFU1 gene or the BOLA3 gene. In these cases, the condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD

Question: What are the symptoms of Multiple mitochondrial dysfunctions syndrome ?
Answer: What are the signs and symptoms of Multiple mitochondrial dysfunctions syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple mitochondrial dysfunctions syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of mitochondrial metabolism - Autosomal recessive inheritance - Cerebral atrophy - Congenital onset - Death in infancy - Decreased activity of mitochondrial respiratory chain - Dilated cardiomyopathy - Encephalopathy - Epileptic encephalopathy - Failure to thrive - Feeding difficulties - Hepatomegaly - High palate - Hypoplasia of the corpus callosum - Intrauterine growth retardation - Lactic acidosis - Lethargy - Metabolic acidosis - Microcephaly - Muscle weakness - Polyhydramnios - Polymicrogyria - Pulmonary hypertension - Respiratory failure - Retrognathia - Seizures - Severe muscular hypotonia - Vomiting - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD