There are several subtypes of Schwartz-Jampel syndrome. Type I, considered the classic type, has two subtypes. Type IA becomes apparent later in childhood and is less severe. Type IB is apparent immediately at birth and has more severe symptoms. These two subtypes have been traced to a defective gene on chromosome 1.
Schwartz-Jampel syndrome Type II is apparent immediately at birth. It has somewhat different symptoms than either IA or IB and is not associated with any gene defect on chromosome 1. Therefore, researchers believe Type II is the same disease as Stuve-Wiedermann syndrome. Therefore, Type I will be the focus of this article.
Symptoms
The main symptom of Schwartz-Jampel syndrome is muscle stiffness. This
stiffness is similar to that of stiff person syndrome
or Isaacs syndrome, but the stiffness of Schwartz-Jampel
syndrome is not relieved by medication or sleep. Addtional symptoms may
include:
- short stature
- flattened facial features, narrow corners of the eyes, and small lower jaw
- joint deformities such as short neck, outward curving of the spine (kyphosis), or protruding chest (pectus carinatum, also called "pigeon chest").
Diagnosis
Schwartz-Jampel syndrome is usually detected during the first year of
life, often at birth. Parents may notice an infant's stiff muscles during
diaper changes, for example. This stiffness plus the facial features common
to the syndrome are usually sufficient for diagnosis. Studies of muscle
and nerve conduction will show abnormalities.
Treatment
There is no cure for Schwartz-Jampel syndrome, so treatment focuses on
reducing the muscle stiffness. Medications that are useful in other muscle
disorders, such as anticonvulsants and anti-arrhythemics may be helpful.
However, the muscle stiffness in Schwartz-Jampel syndrome worsens slowly
over time if at all, nor does it shorten the lifespan, so using means
other than medication may be preferable. These include muscle massage,
warming, stretching, and warming up before exercise.
Genetic counseling
Since Schwartz-Jampel syndrome is inherited in an autosomal recessive
manner, if an individual is born with the syndrome both of his parents
are carriers of the defective gene. Each future child that these parents
have will have a 1 in 4 chance of being born with the syndrome.
Information for this article was taken from:
Berman, S. (2004). Schwartz-Jampel syndrome. eMedicine, accessed at
http://www.emedicine.com/neuro/topic337.htm
