[Revise subclass] mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

[ValWood]

Mondo term (ID and Label)

mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714

Suggested revision and reasons

Should this have "muscular dystrophy" MONDO:0020121 as a parent?

PMID:31463572 Bi-allelic loss-of-function variants in MSTO1 manifest clinically with a remarkably consistent phenotype of childhood-onset muscular dystrophy.....

Your nano-attribution (ORCID) https://orcid.org/0000-0001-6330-7526

[sabrinatoro]

PMID:31463572 Bi-allelic loss-of-function variants in MSTO1 manifest clinically with a remarkably consistent phenotype of childhood-onset muscular dystrophy.....

To me, it means that this disease present the phenotype 'muscular dystrophy' (HP:0003560), but I don't know whether it is enough to define this disease as a "muscular dystrophy" disease.

@pnrobinson and @ahamosh : do you think "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" (MONDO:0044714) is a "muscular dystrophy" (MONDO:0020121) Here is the OMIM entry: https://omim.org/entry/617675 Thanks!

[ahamosh]

This is a mitochondrial depletion syndrome causing myopathy, corticospinal tract and cerebellar involvement. It is much more than a muscular dystrophy because of brain and other neurologic involvement.

[pnrobinson]

YMMV but I think that when most clinicians speak of muscular dystrophy they refer to diseases in which muscular dystrophy is the only (or primary) feature. I think this is what Ada is implying above?

[ahamosh]

I wouldn't characterize this as a "muscular dystrophy". Peter, who knew you were so hip?

[pnrobinson]

"hip": Ada, you must be thinking of somebody else 😄 but I appreciate the thought!

[ValWood]

ok!

[sabrinatoro]

Thank you @ahamosh and @pnrobinson for your quick response!

@ValWood, I am closing this issue.