OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OPA1)

Question 1

What is  OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OPA1)?

Accepted Answer

rare

autosomal dominant

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 125250

Question 3

Which enzymes are involved?

Accepted Answer

Dynamin-like 120 kDa protein, mitochondrial

Disease	OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OPA1)
Synonym	DOMINANT OPTIC ATROPHY PLUS SYNDROME; DOA+
OMIM	125250 OMIM = Online Mendelian Inheritance of Men
Orphanet	1215
Protein (UniProt)	Dynamin-like 120 kDa protein, mitochondrial
Gene locus	3p29
ICD	H47.2
Summary	rare autosomal dominant
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	ataxia gait disturbance hearing defect, deafness hypertonia, spasticity myopathy neuropathy onset, adolescent onset, childhood onset, infancy ophthalmoplegia optic atrophy ptosis (drooping eyelid) strabismus