Fatal familial insomnia
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:
- Inga Zerr
- Matthias Schmitz
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (26 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Fever
Fever
- MedGen UID: 5169
- Concept ID: C0015967
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Fever
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Diplopia
Diplopia
- MedGen UID: 41600
- Concept ID: C0012569
- Finding: Disease or Syndrome
Abnormality of the eye
- Diplopia
- Abnormality of the genitourinary system
- Urinary retention
Urinary retention
- MedGen UID: 38289
- Concept ID: C0080274
- Finding: Functional Concept
Abnormality of the genitourinary system
- Urinary retention
- Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Hyperhidrosis
- Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
Abnormal autonomic nervous system physiology
- MedGen UID: 8511
- Concept ID: C0013363
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral cortex with spongiform changes
Cerebral cortex with spongiform changes
- MedGen UID: 341885
- Concept ID: C1857934
- Finding: Finding
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- 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
- Insomnia
Insomnia
- MedGen UID: 214589
- Concept ID: C0917801
- Finding: Sign or Symptom
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Neuronal loss in central nervous system
Neuronal loss in central nervous system
- MedGen UID: 342515
- Concept ID: C1850496
- Finding: Finding
Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Apnea
- Growth abnormality
- Weight loss
Weight loss
- MedGen UID: 853198
- Concept ID: C1262477
- Finding: Finding
Growth abnormality
- Weight loss
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