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Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain

MedGen UID:
342395
Concept ID:
C1850022
Disease or Syndrome
Synonym: Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
 
Monarch Initiative: MONDO:0009851
OMIM®: 260970

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
Cerebral degeneration
MedGen UID:
56343
Concept ID:
C0154671
Disease or Syndrome
A neurodegenerative disease that involves the telencephalon.
Necrotizing encephalopathy
MedGen UID:
853253
Concept ID:
C1396481
Disease or Syndrome
A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.
Chronic axonal neuropathy
MedGen UID:
867220
Concept ID:
C4021578
Disease or Syndrome
An abnormality characterized by chronic impairment of the normal functioning of the axons.

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