Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
- Synonyms
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Bruce H Cohen
- Patrick F Chinnery
- William C Copeland
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (109 available)
Clinical features
Help- Abnormality of limbs
- Limb muscle weakness
Limb muscle weakness
- MedGen UID: 107956
- Concept ID: C0587246
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Limb muscle weakness
- Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Gastroparesis
Gastroparesis
- MedGen UID: 101809
- Concept ID: C0152020
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
Hypergonadotropic hypogonadism
- MedGen UID: 184926
- Concept ID: C0948896
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypergonadotropic hypogonadism
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Diplopia
Diplopia
- MedGen UID: 41600
- Concept ID: C0012569
- Finding: Disease or Syndrome
Abnormality of the eye
- Progressive external ophthalmoplegia
Progressive external ophthalmoplegia
- MedGen UID: 102439
- Concept ID: C0162674
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Total ophthalmoplegia
Total ophthalmoplegia
- MedGen UID: 57604
- Concept ID: C0155338
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Premature ovarian insufficiency
Premature ovarian insufficiency
- MedGen UID: 9963
- Concept ID: C0025322
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Secondary amenorrhea
Secondary amenorrhea
- MedGen UID: 115919
- Concept ID: C0232940
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Testicular atrophy
Testicular atrophy
- MedGen UID: 57626
- Concept ID: C0156312
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Premature ovarian insufficiency
- Abnormality of the musculoskeletal system
- Cytochrome C oxidase-negative muscle fibers
Cytochrome C oxidase-negative muscle fibers
- MedGen UID: 867360
- Concept ID: C4021724
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: myopathic abnormalities
EMG: myopathic abnormalities
- MedGen UID: 867362
- Concept ID: C4021726
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Facial palsy
Facial palsy
- MedGen UID: 87660
- Concept ID: C0376175
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Multiple mitochondrial DNA deletions
Multiple mitochondrial DNA deletions
- MedGen UID: 479006
- Concept ID: C3277376
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle fiber necrosis
Muscle fiber necrosis
- MedGen UID: 376893
- Concept ID: C1850848
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Neck flexor weakness
Neck flexor weakness
- MedGen UID: 334801
- Concept ID: C1843637
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive muscle weakness
Progressive muscle weakness
- MedGen UID: 68704
- Concept ID: C0240421
- Finding: Finding
Abnormality of the musculoskeletal system
- Ragged-red muscle fibers
Ragged-red muscle fibers
- MedGen UID: 477048
- Concept ID: C3275417
- Finding: Finding
Abnormality of the musculoskeletal system
- Rhabdomyolysis
Rhabdomyolysis
- MedGen UID: 19775
- Concept ID: C0035410
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria
- MedGen UID: 871128
- Concept ID: C4025597
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Cytochrome C oxidase-negative muscle fibers
- Abnormality of the nervous system
- Bradykinesia
Bradykinesia
- MedGen UID: 115925
- Concept ID: C0233565
- Finding: Sign or Symptom
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait ataxia
Gait ataxia
- MedGen UID: 155642
- Concept ID: C0751837
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hand tremor
Hand tremor
- MedGen UID: 68689
- Concept ID: C0239842
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Impaired distal proprioception
Impaired distal proprioception
- MedGen UID: 867227
- Concept ID: C4021585
- Finding: Finding
Abnormality of the nervous system
- Impaired distal vibration sensation
Impaired distal vibration sensation
- MedGen UID: 381262
- Concept ID: C1853767
- Finding: Finding
Abnormality of the nervous system
- Parkinsonian disorder
Parkinsonian disorder
- MedGen UID: 66079
- Concept ID: C0242422
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication
- MedGen UID: 375989
- Concept ID: C1846868
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Resting tremor
Resting tremor
- MedGen UID: 66697
- Concept ID: C0234379
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sensory axonal neuropathy
Sensory axonal neuropathy
- MedGen UID: 334116
- Concept ID: C1842587
- Finding: Finding
Abnormality of the nervous system
- Slurred speech
Slurred speech
- MedGen UID: 65885
- Concept ID: C0234518
- Finding: Finding
Abnormality of the nervous system
- Bradykinesia
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Exercise intolerance
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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