Microcephaly was present in 15 patients (11.5%). [ojrd.biomedcentral.com]

Swallowing impairment and decreased respiratory muscle strength can be present and should be actively detected. Obstructive apneas may also be present. [mdpi.com]

In four of these samples, the mtDNA mutation present in the index patient was detected, indicating a recurrence risk of 8% (4/50). Larger numbers of (normal) prenatal diagnoses are presently not available to include in our analysis. [jmg.bmj.com]

Our patient presented the first symptoms immediately after birth, and the diagnosis was made two years later. [scielo.br]

The genetic mutations that are present in the mtDNA may outnumber the normal copies of the genes. Generally, symptoms may not occur until mutations are present in a significant percentage of the mitochondria. [rarediseases.org]

• Developmental Delay

  Her treatment outcome was poor, with oxygen dependence, spastic tetraplegy, and severe developmental delay. Clinical exome sequencing was then performed. [scielo.br]

• Abnormal Breathing

  Individuals with MILS may develop a variety of respiratory abnormalities including the temporary cessation of spontaneous breathing (apnea), difficulty breathing (dyspnea), abnormally rapid breathing (hyperventilation), and/or abnormal breathing patterns [rarediseases.org]

  Respiratory dysfunction Respiratory dysfunction was present in 37.7% with hyperventilation and/or abnormal breathing pattern being the most prevalent type (20.0%), followed by apnoea (16.1%), obstructive or restrictive respiratory disease (13.8%) and [ojrd.biomedcentral.com]

• Failure to Thrive

  Full size image Figure 6 Kaplan-Meier survival curve for those patients with versus without history of failure to thrive. [ojrd.biomedcentral.com]

  These features associated with the signs and symptoms defining KSS (which may, therefore, become predictive) include tremor, hearing loss, cognitive involvement, failure to thrive/short stature, and cardiomyopathy [48]. [mdpi.com]

  After the first year of life, the patient presented with failure to thrive and neurological regression was reported as she stopped grabbing toys and pointing objects and persons. [scielo.br]

• Hearing Impairment

  Hearing impairment was identified in 25 patients and was sensorineural in 22, conductive in two and mixed in one patient. [ojrd.biomedcentral.com]

  Non-Syndromic Hearing Loss (NSHL) Hearing impairment is a common clinical feature, either as an isolated manifestation (i.e., NSHL) or as part of a disease spectrum (e.g., MELAS). [mdpi.com]

• Peripheral Neuropathy

  Disease affecting the nerves outside of the central nervous system (peripheral neuropathy) may eventually occur, causing progressive weakness of the arms and legs. [rarediseases.org]

  Mitochondrial Neuropathies Mitochondrial disorders involving the peripheral nervous system are well known. However, the exact prevalence of peripheral neuropathy in mitochondrial disorders is still unclear. [mdpi.com]

  It has been thought that the main clinical features caused by C12orf65 variants correspond to a triad of optic atrophy, peripheral neuropathy, and spastic paraparesis, associated or not with Leigh syndrome. [scielo.br]

  neuropathy (6.9%); scoliosis (6.9%); speech delay (6.1%); renal dysfunction (5.4%); sleep disturbances (2.3%); hypothermia/hyperthermia (2.3%); psychotic disorders (1.5%) and haematological dysfunction in two patients, one of whom had b-thalassaemia [ojrd.biomedcentral.com]

Clinical Testing and Workup A wide variety of tests may be necessary to rule out other conditions and to help obtain a diagnosis of a mitochondrial disorder. [rarediseases.org]

Therefore, an acute “clinical awareness” about this diagnosis is essential to start a correct diagnostic workup. [mdpi.com]

Treatment is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Resistance to antiepileptic treatment was reported in 16 patients. [ojrd.biomedcentral.com]

Her treatment outcome was poor, with oxygen dependence, spastic tetraplegy, and severe developmental delay. Clinical exome sequencing was then performed. [scielo.br]

Early treatment with high-dose coenzyme Q10 may dramatically change the prognosis of this disease. 3. [mdpi.com]

The potential of a severe phenotype and the lack of effective treatment often prompts couples who have affected offspring or a positive family history of mtDNA disease to request intervention to prevent transmission. [jmg.bmj.com]

Early treatment with high-dose coenzyme Q10 may dramatically change the prognosis of this disease. 3. [mdpi.com]

Our data help define the natural history of Leigh syndrome and identify novel predictors of disease severity and long-term prognosis. [ojrd.biomedcentral.com]

Affected individual and/or their families should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

The prognosis of Leigh syndrome is generally poor, with rapid deterioration of cognitive and motor functions resulting in death within months or a few years (Sofou et al., 2014Sofou K, De Coo IF, Isohanni P, Ostegaard E, Naess K, Meirleir L, Tzoulis C [scielo.br]

Etiologically, IBSN has been attributed to infectious and autoimmune processes, while a mitochondrial dysfunction has also been suggested in familial cases [28]. [ojrd.biomedcentral.com]

The relative frequencies are indicative (specifically designed epidemiological studies are not available). mtDNA, mitochondrial DNA. [mdpi.com]

We offer recommendations for reproductive counselling including strategies to prevent the birth of children affected by mtDNA disease. [jmg.bmj.com]