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 ).

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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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 %

We have -7 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYSTEMIC LUPUS ERYTHEMATOSUS; SLE ACTH DEFICIENCY, ISOLATED; IAD ABETALIPOPROTEINEMIA; ABL CHROMOSOME 2p16.1-p15 DELETION SYNDROME CEREBELLAR ATAXIA, CAYMAN TYPE; ATCAY CARNEY COMPLEX VARIANT THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more