Multiple Mitochondrial Dysfunctions Syndrome 5; Mmds5
Description
MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).
Genes related to Multiple Mitochondrial Dysfunctions Syndrome 5; Mmds5
- ISCA1
Clinical Features
Top most frequent phenotypes and symptoms related to Multiple Mitochondrial Dysfunctions Syndrome 5; Mmds5
- Seizures
- Global developmental delay
- Spasticity
- Feeding difficulties
- Hyperreflexia
- Ventriculomegaly
- Elevated serum creatine phosphokinase
- Acidosis
- Developmental regression
- Retinopathy
And another 7 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Multiple Mitochondrial Dysfunctions Syndrome 5; Mmds5 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
ISCA1.
By Fulgent Genetics Fulgent Genetics (United States).
ISCA1
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTHEMIA 3; THCYT3 ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; APRTD ACHONDROGENESIS, TYPE IA; ACG1A CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5 FAMILIAL ADENOMATOUS POLYPOSIS 4; FAP4 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1