Presentation
[…] depletion syndrome 5 encephalomyopathic with or without methylmalonic aciduria Mitochondrial DNA depletion syndrome encephalomyopathic form with or without methylmalonic aciduria autosomal recessive SUCLA2-related Keywords Any medical or genetic information present [uniprot.org]
He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]
All patients exhibited congenital lactic acidemia, most of them with severe encephalopathic presentation, and global developmental delay. [utsouthwestern.influuent.utsystem.edu]
Myopathic MDS, caused by mutations in TK2, usually present before the age of 2 years with hypotonia and muscle weakness. [ncbi.nlm.nih.gov]
Musculoskeletal
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Muscle Hypotonia
Motor skills that had been learned may be lost, but generally the functioning of the brain and ability to think are not affected. [5] In MDDS associated with mutations in SUCLA2 or SUCLG1 that primarily affect the brain and muscle, hypotonia generally [en.wikipedia.org]
Ears
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Hearing Impairment
impairment ; Spasticity ; Strabismus Associated Genes SUCLA2 Mouse Orthologs Sucla2 (Withdrawn symbols: 4930547K18Rik ) Source OMIM:612073 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene [mousephenotype.org]
It can also lead to the slowing down of thoughts and a reduction in physical movement, hearing impairment and seizures. [mirror.co.uk]
The disease also can cause hearing impairment and short stature. [mda.org]
The disease can cause the slowing down of thoughts and a reduction in physical movement, hearing impairment and seizures. [thesun.co.uk]
Neurologic
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Irritability
Dystonia ; Elevated serum creatine phosphokinase ; Facial diplegia ; Failure to thrive ; Feeding difficulties in infancy ; Generalized hypotonia ; Global developmental delay ; Hyporeflexia ; Infantile onset ; Intellectual disability, progressive ; Irritability [mousephenotype.org]
These may be accompanied by other problems such as irritability, loss of appetite, vomiting and seizures. There may be periods of sharp decline or temporary restoration of some functions. [umdf.org]
Other common problems that we see in our patients are poor bowel function, which often leads to either the irritable bowel disease or severe constipation. [mitochondrialdisease.nhs.uk]
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Hyporeflexia
[…] activity of mitochondrial respiratory chain ; Delayed gross motor development ; Dystonia ; Elevated serum creatine phosphokinase ; Facial diplegia ; Failure to thrive ; Feeding difficulties in infancy ; Generalized hypotonia ; Global developmental delay ; Hyporeflexia [mousephenotype.org]
Treatment
She said life-support treatment would not benefit Charlie but "prolong the process of dying" and added: "This is not pioneering or life-sustaining treatment, but a purely experimental process with no real prospect of improving Charlie's condition or quality [standard.co.uk]
Very few people who develop the condition in infancy survive to their teenage years, and there is currently no known treatment for it. [metro.co.uk]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
The condition is extremely rare and there is no treatment for it. Charlie Gard, a baby who suffered from MDDS, died in July 2017 after his parents lost their legal battle to continue his life support. [express.co.uk]
Prognosis
Overall, MDS are severe disorders with poor prognosis in the majority of affected individuals. No efficacious therapy is available for any of these disorders. [ncbi.nlm.nih.gov]
The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. [umdf.org]
PROGNOSIS Prognosis depends upon which disorder, which symptoms and the severity of those symptoms. Some of the conditions we thought were uniformly progressive and fatal are not (Leigh syndrome, for example). [childneurologyfoundation.org]
Life Expectancy The prognosis for people who have Mitochondrial Disease is greatly influenced by the degree of involvement of various organs and they type of Mitochondrial Disease the person has. [hubpages.com]
But the Estopinans refused to accept the prognosis. “I told the doctor ‘Thank you, because if it wasn’t for you, we wouldn’t know what was wrong with our son,’” Art recalled. [tk2cures.com]
Etiology
Table 1 summarizes the main clinical manifestations and molecular etiologies associated with these different forms. [ijponline.biomedcentral.com]
Epidemiology
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. There is no cure or specific treatment for MELAS. [umdf.org]
PubMed Central View Article PubMed Google Scholar Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF: The epidemiology of mitochondrial disorders- past, present and future. Biochim Biophys Acta. 2004, 1659 (Suppl 2–3): 115-120. [ijponline.biomedcentral.com]
Prevention
This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]
GOSH confirmed that decisions by various legal institutions prevented Charlie from leaving the hospital in a July 7 statement. [mitochondrialdiseasenews.com]
Mr Preston said he advised Ms Yates that if she and Mr Gard took on Great Ormond Street, the hospital would likely use the courts to prevent Charlie from leaving the ward. [northwichguardian.co.uk]
The implication is that it might only prevent further deterioration. [theguardian.com]
Can Alper's be prevented? If the genetic faults are present, then there is nothing that can be taken during pregnancy or given to the infant that will prevent Alper's occurring. [mitochondrialdisease.nhs.uk]