Striatonigral degeneration, infantile, mitochondrial
- Synonyms
- BILATERAL STRIATAL NECROSIS, INFANTILE, MITOCHONDRIAL; Familial bilateral striatal necrosis
Clinical features
Help- Abnormality of head or neck
- Facial grimacing
Facial grimacing
- MedGen UID: 65891
- Concept ID: C0234853
- Finding: Finding
Abnormality of head or neck
- Facial grimacing
- 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 eye
- Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude
- MedGen UID: 326793
- Concept ID: C1839025
- Finding: Finding
Abnormality of the eye
- Ophthalmoparesis
Ophthalmoparesis
- MedGen UID: 155551
- Concept ID: C0751401
- Finding: Sign or Symptom
Abnormality of the eye
- Decreased light- and dark-adapted electroretinogram amplitude
- Abnormality of the musculoskeletal system
- Difficulty walking
Difficulty walking
- MedGen UID: 86319
- Concept ID: C0311394
- Finding: Finding
Abnormality of the musculoskeletal system
- Frequent falls
Frequent falls
- MedGen UID: 163408
- Concept ID: C0850703
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Mild microcephaly
Mild microcephaly
- MedGen UID: 332294
- Concept ID: C1836806
- Finding: Congenital Abnormality
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
- Difficulty walking
- Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Brisk reflexes
Brisk reflexes
- MedGen UID: 382164
- Concept ID: C2673700
- Finding: Finding
Abnormality of the nervous system
- Chorea
Chorea
- MedGen UID: 3420
- Concept ID: C0008489
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Clonus
Clonus
- MedGen UID: 40341
- Concept ID: C0009024
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Headache
Headache
- MedGen UID: 9149
- Concept ID: C0018681
- Finding: Sign or Symptom
Abnormality of the nervous system
- Incoordination
Incoordination
- MedGen UID: 141714
- Concept ID: C0520966
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Lingual dystonia
Lingual dystonia
- MedGen UID: 1377034
- Concept ID: C2242579
- Finding: Sign or Symptom
Abnormality of the nervous system
- Motor tics
Motor tics
- MedGen UID: 199761
- Concept ID: C0751900
- Finding: Sign or Symptom
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
- MedGen UID: 343687
- Concept ID: C1851936
- Finding: Finding
Abnormality of the nervous system
- Poor motor coordination
Poor motor coordination
- MedGen UID: 338471
- Concept ID: C1848453
- Finding: Finding
Abnormality of the nervous system
- Striatal T2 hyperintensity
Striatal T2 hyperintensity
- MedGen UID: 1626830
- Concept ID: C4531279
- Finding: Finding
Abnormality of the nervous system
- Babinski sign
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