MNGIE is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms (recurrent nausea, vomiting, or diarrhea) with intestinal dysmotility, and histologically abnormal mitochondria in muscle. [ncbi.nlm.nih.gov]

Additionally, gastrointestinal symptoms such as borborygmi, early satiety, diarrhea, constipation, gastroparesis, nausea, vomiting, weight loss, and diverticulitis may be present in MNGIE patients. [en.wikipedia.org]

The main symptoms of Mitochondrial Neurogastrointestinal Encephalopathy Disease are progressive gastrointestinal symptoms such as nausea, inability to swallow, reflux, vomiting, abdominal pain and diarrhea. [thinkgenetic.com]

These symptoms included: diarrhoea (11/36); abdominal pain (8/36); nausea/vomiting (6/36); abdominal cramps (6/36); weight loss (4/36); borborygmi (3/36); wasting/failure to thrive/thin (2/36); intestinal pseudo-obstruction (2/36); bloating (1/36); and [brain.oxfordjournals.org]

Back to: « Mitochondrial DNA depletion syndrome Symptoms of Mitochondrial DNA depletion syndrome type 1 Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the abdomen Abdominal pain Constipation Gastrointestinal dysmotility [familydiagnosis.com]

The main symptoms of Mitochondrial Neurogastrointestinal Encephalopathy Disease are progressive gastrointestinal symptoms such as nausea, inability to swallow, reflux, vomiting, abdominal pain and diarrhea. [thinkgenetic.com]

Added to this are gastroparesis, constipation, vomiting, and intermittent diarrhea with abdominal pain. Many individuals develop diverticulosis and diverticulitis that may lead to intestinal perforations. [disorders.eyes.arizona.edu]

The symptoms that affected patients present vary, but the most common presenting symptoms are gastrointestinal issues such as nausea, vomiting, abdominal pain, and diarrhea, and neurologic or ocular symptoms such as hearing loss, weakness, and peripheral [en.wikipedia.org]

These symptoms included: diarrhoea (11/36); abdominal pain (8/36); nausea/vomiting (6/36); abdominal cramps (6/36); weight loss (4/36); borborygmi (3/36); wasting/failure to thrive/thin (2/36); intestinal pseudo-obstruction (2/36); bloating (1/36); and [brain.oxfordjournals.org]

The post-transplant clinical follow-up showed improvement in gastrointestinal dysmotility, abdominal cramps and diarrhea. Neurological assessment remained unchanged. [ncbi.nlm.nih.gov]

These symptoms included: diarrhoea (11/36); abdominal pain (8/36); nausea/vomiting (6/36); abdominal cramps (6/36); weight loss (4/36); borborygmi (3/36); wasting/failure to thrive/thin (2/36); intestinal pseudo-obstruction (2/36); bloating (1/36); and [brain.oxfordjournals.org]

Additionally, gastrointestinal symptoms such as borborygmi, early satiety, diarrhea, constipation, gastroparesis, nausea, vomiting, weight loss, and diverticulitis may be present in MNGIE patients. [en.wikipedia.org]

These symptoms included: diarrhoea (11/36); abdominal pain (8/36); nausea/vomiting (6/36); abdominal cramps (6/36); weight loss (4/36); borborygmi (3/36); wasting/failure to thrive/thin (2/36); intestinal pseudo-obstruction (2/36); bloating (1/36); and [brain.oxfordjournals.org]

Case 2: This 6½-month-old boy born to a non-consanguineous couple presented with persistent jaundice and abdominal distension since four months of age. [indianpediatrics.net]

Danks DM, Cartwright E, Stevens BJ, Townley RRW (1973) Menkes' kinky hair disease: further definition of the defect in copper transport. Science 179:1140–1142 Google Scholar 6. [doi.org]

In our cohort, 9/63 (14%) patients presented with: peripheral neuropathy manifesting as numbness or foot drop (5/9); limb weakness and paraesthesia (1/9); leg cramps (1/9); tripping (1/9); or hearing loss (1/9). [brain.oxfordjournals.org]

The disease can cause the slowing down of thoughts and a reduction in physical movement, hearing impairment and seizures. [thesun.co.uk]

Hearing impairment associated to severe encephalomyopathy has been only reported in one family with MDS caused by SUCLA2 mutations ( 14 ). [nature.com]

impairment and ophthalmoplegia [ 6 ]. [ijponline.biomedcentral.com]

Malnutrition caused anaemia in four patients and amenorrhea in two patients. Other sporadic findings included: pigmentary retinopathy (three patients); dry mouth/eyes (three patients); psoriasis (one patient); and coarse bronze skin (one patient). [brain.oxfordjournals.org]

In our cohort, 9/63 (14%) patients presented with: peripheral neuropathy manifesting as numbness or foot drop (5/9); limb weakness and paraesthesia (1/9); leg cramps (1/9); tripping (1/9); or hearing loss (1/9). [brain.oxfordjournals.org]

The myopathic form is characterized by progressive weakness, hypotonia, areflexia, and respiratory failure before 10 years of age. [pediatricneurologybriefs.com]

This finding may also explain the cranial neuropathies that patients with MNGIE have. [ncbi.nlm.nih.gov]

The clinical course was complicated by an endocrine or exocrine pancreatic insufficiency in nine patients: diabetes (four patients); amylase increase (two patients); glucose intolerance (one patient); or exocrine insufficiency (two patients). [brain.oxfordjournals.org]

Uncommon clinical features included short stature (five patients) and cardiopathy (three patients with prolonged QT interval, cardiac arrest or supraventricular tachycardia). [brain.oxfordjournals.org]

BAEPs may be useful in the neurophysiological evaluation of central white matter lesions in MNGIE. Similar neurophysiological findings have been reported in other myelin disorders in the central nervous system. [ncbi.nlm.nih.gov]

The white matter lesions appear hyperintense on T 2 -weighted or fluid-attenuated inversion recovery images and may initially be patchy, but eventually become diffuse and confluent. [brain.oxfordjournals.org]

Cellular phenotype and pathology Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012; pubmed:22187496 ). [flybase.org]