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]
Myopathic MDS, caused by mutations in TK2, usually present before the age of 2 years with hypotonia and muscle weakness. [ncbi.nlm.nih.gov]
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]
Entire Body System
- Poor Feeding
However, he was admitted on the second day of life for 22 days because of poor feeding and repeated vomiting, and was seen to have episodes of unexplained hypoglycemia. He continued to have poor feeding and occasional episodes of vomiting. [saudijgastro.com]
Ears
- 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impairment ; Spasticity ; Strabismus Associated Genes SUCLA2 Mouse Orthologs Sucla2 (Withdrawn symbols: 4930547K18Rik ) Source OMIM:612073 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene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]
Musculoskeletal
- Muscle Hypotonia
Primary symptoms of the disease are developmental delay, progressive intellectual disability, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. [en.wikipedia.org]
Psychiatrical
- Fear
Their barrister said: ‘The parents’ worst fears have been confirmed, it is now too late to treat Charlie.’ [metro.co.uk]
He was born happy and healthy in February 2011, but by the time he was 14 months old, his parents, Art and Olga Estopinan, began to fear something might be wrong. “We had no idea of the storm that was headed our way,” Art explained. [tk2cures.com]
Neurologic
- 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]
At the age of 12 months, the infant had no dysmorphic features, and was alert and appropriately attentive to different stimuli though slightly irritable. [saudijgastro.com]
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]
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]
- 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]
Possible treatment Charlie’s parents have applied to take him to the United States for nucleoside therapy treatment. [gosh.nhs.uk]
GOSH describes experimental nucleoside therapies as "unjustified" and the treatment is not a cure. [telegraph.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]
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]
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]
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]
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]
Etiology
Table 1 summarizes the main clinical manifestations and molecular etiologies associated with these different forms. [ijponline.biomedcentral.com]
The underlying etiology is not clear; it is possible that frequent episodes of severe dehydration and metabolic acidosis may play a role in its development. [saudijgastro.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
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]
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]
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]