Stiff baby syndrome
A genetic disorder also known as hyperexplexia in which babies have an exaggerated startle reflex (reaction). This disorder was not recognized until 1962 when it was described by Drs. Kok and Bruyn as a disease with the onset at birth of hypertonia (stiffness), exaggerated startle response, strong brain-stem reflexes (especially head-retraction reflex) and, in some cases, epilepsy. The hypertonia (stiffness) was evident with flexion of limbs, disappeared during sleep and diminished over the first year of life. The startle reflex was sometimes accompanied by acute generalized hypertonia (sudden stiffness) causing the person to fall like a log to the ground. There were 29 affected males and females in 6 generations, indicating that the disorder is an autosomal (non-sexlinked) dominant trait. A number of other families have since been found with this disease. Additional findings include a tendency to umbilical and inguinal hernias (presumably due to increased intraabdominal pressure) and congenital dislocation of the hip. The exaggerated startle response persists throughout life; startles can be elicited by lightly touching the person's nose, clapping or making other noises, or suddenly jolting the person's chair. The gene responsible for this disease has been found on chromosome number 5. (It is in bands 5q33.2-q33.3 and is a mutation in the gene for the alpha-1 subunit of the glycine receptor). Treatment is with medications. The neurologic features can usually be controlled with clonazepam (KLONOPIN). In some cases, phenobarbital, diazepam (VALIUM), and valproic acid (DEPAKENE) have also been found useful. Hyperexplexia is also called Kok disease, startle disease, exaggerated startle reflex, and hyperekplexia.

Medical dictionary. 2011.

Look at other dictionaries:

  • Stiff person syndrome — (SPS) (or stiff man syndrome; also known as Stiffperson s Syndrome or Moersch Woltman Condition) is a rare neurologic disorder of unknown etiology characterized by progressive rigidity and stiffness, primarily of the axial musculature, that is… …   Wikipedia

  • Syndrome, stiff baby — A genetic disorder also known as hyperexplexia in which babies have an exaggerated startle reflex (reaction). This disorder was not recognized until 1962 when it was described by Drs. Kok and Bruyn as a disease with the onset at birth of… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Liste der Syndrome — Diese Seite listet in alphabetischer Reihenfolge und ohne Anspruch auf Vollständigkeit Syndrome und Komplexe aus unterschiedlichen medizinischen Fachgebieten auf. Bitte nur Verweise auf den tatsächlichen Titel des Beitrags und keine… …   Deutsch Wikipedia

  • Liste Des Maladies Génétiques À Gène Identifié — Ceci est la liste des maladies génétiques à gène identifié. Voir aussi la : liste des maladies génétiques à gène non identifié. Les maladies génétiques citées ici sont les maladies génétiques dont le gène est connu (Symbole + de MIM) ou dont …   Wikipédia en Français

  • Liste Des Maladies Rares — Liste des maladies commençant par une lettre Mise en garde médicale Maladie rare Liste des maladies rares Commençant par un chiffre Commençant par une lettre …   Wikipédia en Français

  • Liste Des Maladies Rares Commençant Par Un S — Mise en garde médicale Maladie rare Liste des maladies rares Commençant par un chiffre Commençant par une lettre …   Wikipédia en Français

  • Liste de maladies génétiques — Liste des maladies génétiques à gène identifié Ceci est la liste des maladies génétiques à gène identifié. Voir aussi la : liste des maladies génétiques à gène non identifié. Les maladies génétiques citées ici sont les maladies génétiques… …   Wikipédia en Français

  • Liste de maladies rares — Cette page liste des maladies rares. Sommaire : Haut A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0 9 A Aagenaes, syndrome d …   Wikipédia en Français

  • Liste des maladies commençant par une lettre — Mise en garde médicale Maladie rare Liste des maladies rares Commençant par un chiffre Commençant par une lettre …   Wikipédia en Français

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”