Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Synonyms
- C10orf2-Related Ataxia Neuropathy Spectrum Disorders; Epilepsy, progressive myoclonic, type 5; POLG-Related Ataxia Neuropathy Spectrum Disorders; SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
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 (141 available)
Clinical features
Help- Abnormality of limbs
- Absent Achilles reflex
Absent Achilles reflex
- MedGen UID: 108240
- Concept ID: C0558845
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Scapular winging
Scapular winging
- MedGen UID: 66822
- Concept ID: C0240953
- Finding: Anatomical Abnormality
Abnormality of limbs
- Absent Achilles reflex
- Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Mildly elevated creatine kinase
Mildly elevated creatine kinase
- MedGen UID: 342469
- Concept ID: C1850309
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
- Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral valve prolapse
Mitral valve prolapse
- MedGen UID: 7671
- Concept ID: C0026267
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Primary dilated cardiomyopathy
Primary dilated cardiomyopathy
- MedGen UID: 2880
- Concept ID: C0007193
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral regurgitation
- 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
- Intestinal pseudo-obstruction
Intestinal pseudo-obstruction
- MedGen UID: 5864
- Concept ID: C0021847
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- External ophthalmoplegia
External ophthalmoplegia
- MedGen UID: 57662
- Concept ID: C0162292
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
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
- Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
- MedGen UID: 347513
- Concept ID: C1857644
- Finding: Finding
Abnormality of the eye
- Cataract
- Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
Centrally nucleated skeletal muscle fibers
- MedGen UID: 330782
- Concept ID: C1842170
- Finding: Finding
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
- Difficulty climbing stairs
Difficulty climbing stairs
- MedGen UID: 68676
- Concept ID: C0239067
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Fiber type grouping
Fiber type grouping
- MedGen UID: 478824
- Concept ID: C3277194
- Finding: Finding
Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- 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
- Generalized muscle weakness
Generalized muscle weakness
- MedGen UID: 155433
- Concept ID: C0746674
- Finding: Sign or Symptom
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
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Proximal muscle weakness
Proximal muscle weakness
- MedGen UID: 113169
- Concept ID: C0221629
- 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
- 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
- Weakness of facial musculature
Weakness of facial musculature
- MedGen UID: 98103
- Concept ID: C0427055
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Centrally nucleated skeletal muscle fibers
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord
- MedGen UID: 375304
- Concept ID: C1843858
- Finding: Finding
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Broad-based gait
Broad-based gait
- MedGen UID: 167799
- Concept ID: C0856863
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cognitive impairment
Cognitive impairment
- MedGen UID: 90932
- Concept ID: C0338656
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Diminished ability to concentrate
Diminished ability to concentrate
- MedGen UID: 65900
- Concept ID: C0235198
- Finding: Finding
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Emotional lability
Emotional lability
- MedGen UID: 39319
- Concept ID: C0085633
- 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
- Hypoesthesia
Hypoesthesia
- MedGen UID: 6974
- Concept ID: C0020580
- 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 tactile sensation
Impaired distal tactile sensation
- MedGen UID: 867225
- Concept ID: C4021583
- 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
- Migraine
Migraine
- MedGen UID: 57451
- Concept ID: C0149931
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Muscle fibrillation
Muscle fibrillation
- MedGen UID: 65418
- Concept ID: C0231531
- Finding: Finding
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal neuropathy
Peripheral axonal neuropathy
- MedGen UID: 266071
- Concept ID: C1263857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Positive Romberg sign
Positive Romberg sign
- MedGen UID: 66017
- Concept ID: C0240914
- Finding: Finding
Abnormality of the nervous system
- Progressive gait ataxia
Progressive gait ataxia
- MedGen UID: 375309
- Concept ID: C1843885
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sensory ataxia
Sensory ataxia
- MedGen UID: 66020
- Concept ID: C0240991
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sensory ataxic neuropathy
Sensory ataxic neuropathy
- MedGen UID: 336060
- Concept ID: C1843859
- Finding: Finding
Abnormality of the nervous system
- Sensory axonal neuropathy
Sensory axonal neuropathy
- MedGen UID: 334116
- Concept ID: C1842587
- Finding: Finding
Abnormality of the nervous system
- Areflexia
- Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Respiratory insufficiency
- Abnormality of the voice
- Hypernasal speech
Hypernasal speech
- MedGen UID: 99115
- Concept ID: C0454555
- Finding: Finding
Abnormality of the voice
- Hypernasal speech
- Constitutional symptom
- Exercise intolerance
Exercise intolerance
- MedGen UID: 603270
- Concept ID: C0424551
- Finding: Finding
Constitutional symptom
- Exercise intolerance
- Ear malformation
- Abnormal vestibular function
Abnormal vestibular function
- MedGen UID: 334848
- Concept ID: C1843865
- Finding: Finding
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Abnormal vestibular function
- Growth abnormality
- Weight loss
Weight loss
- MedGen UID: 853198
- Concept ID: C1262477
- Finding: Finding
Growth abnormality
- Weight loss
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.