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  3. MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Multiple Mitochondrial Dysfunctions Syndrome 5; Mmds5

Table of contents:

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

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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.

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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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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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