1. Mendelian
  2. Rare Diseases
  3. STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

Striatonigral Degeneration, Infantile, Mitochondrial

Table of contents:

Genes related to Striatonigral Degeneration, Infantile, Mitochondrial

  • MT-ATP6

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Clinical Features

Phenotypes and symptoms related to Striatonigral Degeneration, Infantile, Mitochondrial

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Babinski sign
  • Difficulty walking
  • Frequent falls
  • Ragged-red muscle fibers
  • Decreased light- and dark-adapted electroretinogram amplitude
  • Paroxysmal choreoathetosis

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.

Alternative names

Striatonigral Degeneration, Infantile, Mitochondrial Is also known as bilateral striatal necrosis, infantile, mitochondrial, infantile bilateral striatal necrosis, mitochondrial.

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.

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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