An autosomal recessive condition, meaning that an individual needs to inherit two defective genes, one from each parent, in order to develop the syndrome
There are several subtypes of Schwartz-Jampel syndrome.
Type I, considered the classic type, has two subtypes that have been traced to a defective gene on chromosome 1:
Type IA becomes apparent later in childhood and is less severe.
Type IB is apparent immediately at birth and has more severe symptoms (Stuve-Wiedemann syndrome)
Cause
Schwartz-Jampel syndrome
Defective gene on chromosome 1: HSPG2 gene – this gene provides instructions for making a protein called perlecan, which is found in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development and is also found in muscle.
Abnormal function of perlecan leads to a deficiency of acetylcholinesterase, an enzyme involved in breaking down acetylcholine, a chemical (neurotransmitter) that sends messages between nerves, leading to muscle contraction. If acetylcholine is not broken down, it can lead to prolonged muscle contraction or stiffening of the muscles (myotonia).
info.nih.gov
Family history-autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting FMF), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
Stuve-Wiedemann syndrome
Mutations in the LIFR gene (this gene is responsible for blocking (inhibiting) growth of blood cancer (leukemia) cells, this signaling is also involved in the formation of bone and the development of nerve cells. It appears to play an important role in normal development and functioning of the autonomic nervous system, which controls involuntary body processes such as the regulation of breathing rate and body temperature)
Source: www.jovr.org
Source: https://www.slideshare.net/
Source: https://edition.cnn.com/
Source: https://ghr.nlm.nih.gov/
Source: www.stanfordchildrens.org
Symptoms
High temperature greater than 38°C (100°F) or over and/or chills and sweats longer than 72 hours?
Malignant hyperthermia (MH) is a group of inherited disorders in which exposure to certain anaesthetics (i.e. halothane or cyclopropane) or particular muscle relaxants (i.e. (succinylcholine) may cause:
Dangerous, sudden rise in body temperature (hyperthermia)
Affected children may also lose certain reflexes, particularly the reflex to blink when something touches the eye (corneal reflex) and the knee-jerk reflex (patellar reflex).
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Detailed Information
Please copy and paste any key words from the title: Schwartz-Jampel Syndrome/Stuve-Wiedemann Syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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