Mitochondrial DNA deletion syndrome with progressive myopathy
- Synonyms
- PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (31 available)
Clinical features
Help- Abnormality of head or neck
- Decreased facial expression
Decreased facial expression
- MedGen UID: 350680
- Concept ID: C1862474
- Finding: Finding
Abnormality of head or neck
- Decreased facial expression
- Abnormality of limbs
- Pelvic girdle muscle weakness
Pelvic girdle muscle weakness
- MedGen UID: 96534
- Concept ID: C0427064
- Finding: Finding
Abnormality of limbs
- Shoulder girdle muscle weakness
Shoulder girdle muscle weakness
- MedGen UID: 96533
- Concept ID: C0427063
- Finding: Finding
Abnormality of limbs
- Pelvic girdle muscle weakness
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the cardiovascular system
- Patent foramen ovale
Patent foramen ovale
- MedGen UID: 8891
- Concept ID: C0016522
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Patent foramen ovale
- Abnormality of the eye
- Ophthalmoparesis
Ophthalmoparesis
- MedGen UID: 155551
- Concept ID: C0751401
- Finding: Sign or Symptom
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
- Ophthalmoparesis
- Abnormality of the musculoskeletal system
- Difficulty climbing stairs
Difficulty climbing stairs
- MedGen UID: 68676
- Concept ID: C0239067
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized amyotrophy
Generalized amyotrophy
- MedGen UID: 234650
- Concept ID: C1389113
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Gowers sign
Gowers sign
- MedGen UID: 65865
- Concept ID: C0234182
- Finding: Finding
Abnormality of the musculoskeletal system
- Hyperlordosis
Hyperlordosis
- MedGen UID: 9805
- Concept ID: C0024003
- 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 spasm
Muscle spasm
- MedGen UID: 52431
- Concept ID: C0037763
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Difficulty climbing stairs
- Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Falls
Falls
- MedGen UID: 39084
- Concept ID: C0085639
- Finding: Finding
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Obstructive sleep apnea syndrome
Obstructive sleep apnea syndrome
- MedGen UID: 101045
- Concept ID: C0520679
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Depression
- Abnormality of the respiratory system
- Dyspnea
Dyspnea
- MedGen UID: 3938
- Concept ID: C0013404
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Exertional dyspnea
Exertional dyspnea
- MedGen UID: 68549
- Concept ID: C0231807
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Dyspnea
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Exercise intolerance
- Growth abnormality
- Slender build
Slender build
- MedGen UID: 376828
- Concept ID: C1850573
- Finding: Finding
Growth abnormality
- Slender build
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