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Diseases

Centro de Información sobre Enfermedades Genéticas y Raras

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Hiperekplexia hereditaria

Information in English

Otros nombres para esta enfermedad

  • Enfermedad de Kok
  • Enfermedad del sobresalto familiar
  • Síndrome congénito del hombre rígido
  • Síndrome del bebé rígido
Vea por favor el Aviso Legal sobre nuestra responsabilidad respecto a la información proporcionada en este sitio. Algunos enlaces en esta página pueden llevarlo a páginas en la red que pertenecen a organizaciones que nos son parte de los Institutos Nacionales de Salud.

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What are the signs and symptoms of Hiperekplexia hereditaria?

The Human Phenotype Ontology provides the following list of signs and symptoms for Hiperekplexia hereditaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Hyperreflexia 90%
Hypertonia 90%
Incoordination 90%
Involuntary movements 90%
Limitation of joint mobility 90%
Gait disturbance 50%
Sleep disturbance 50%
Umbilical hernia 50%
Abnormality of the hip bone 7.5%
Cognitive impairment 7.5%
Joint dislocation 7.5%
Seizures 7.5%

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.



Otros nombres para esta enfermedad
  • Enfermedad de Kok
  • Enfermedad del sobresalto familiar
  • Síndrome congénito del hombre rígido
  • Síndrome del bebé rígido
Vea por favor el Aviso Legal sobre nuestra responsabilidad respecto a la información proporcionada en este sitio. Algunos enlaces en esta página pueden llevarlo a páginas en la red que pertenecen a organizaciones que nos son parte de los Institutos Nacionales de Salud.