Schwartz-Jampel syndrome
Schwartz-Jampel Syndrome[edit | edit source]
Schwartz-Jampel Syndrome (SJS) is a rare genetic disorder characterized by myotonia, skeletal abnormalities, and distinctive facial features. It is also known as chondrodystrophic myotonia.
History[edit | edit source]
Schwartz-Jampel Syndrome was first described in 1962 by Robert Schwartz and Raymond Jampel, who identified the condition in two siblings. Since then, additional cases have been reported, and the understanding of the syndrome has expanded.
Genetics[edit | edit source]
SJS is primarily caused by mutations in the HSPG2 gene, which encodes the protein perlecan. Perlecan is a heparan sulfate proteoglycan that plays a crucial role in the structure and function of the extracellular matrix. The inheritance pattern of SJS is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene to manifest the disease.
Clinical Features[edit | edit source]
The clinical presentation of Schwartz-Jampel Syndrome includes:
- Myotonia: Prolonged muscle contractions that can lead to stiffness and difficulty relaxing muscles after use.
- Skeletal Abnormalities: Short stature, joint contractures, and kyphoscoliosis are common.
- Facial Features: Patients often have a characteristic "mask-like" facial appearance, with blepharophimosis, micrognathia, and pursed lips.
- Other Features: Some individuals may experience cataracts, hearing loss, and respiratory difficulties.
Diagnosis[edit | edit source]
Diagnosis of SJS is based on clinical evaluation, family history, and genetic testing to identify mutations in the HSPG2 gene. Electromyography (EMG) can be used to detect myotonia.
Management[edit | edit source]
There is no cure for Schwartz-Jampel Syndrome, but treatment focuses on managing symptoms and improving quality of life. This may include:
- Physical Therapy: To improve mobility and reduce joint contractures.
- Medications: Such as muscle relaxants to alleviate myotonia.
- Surgical Interventions: In some cases, to correct skeletal deformities.
Prognosis[edit | edit source]
The prognosis for individuals with SJS varies depending on the severity of symptoms. With appropriate management, many individuals can lead relatively normal lives, although they may face challenges related to mobility and muscle stiffness.
Research[edit | edit source]
Ongoing research aims to better understand the pathophysiology of Schwartz-Jampel Syndrome and to develop more effective treatments. Studies are exploring the role of perlecan in muscle and bone development and investigating potential gene therapies.
See Also[edit | edit source]
- Myotonia
- Chondrodystrophy
- Genetic Disorders
- Schwartz, R., & Jampel, R. (1962). "Congenital blepharophimosis associated with a unique generalized myopathy." *Archives of Ophthalmology*.
- Other relevant articles and studies.
NIH genetic and rare disease info[edit source]
Schwartz-Jampel syndrome is a rare disease.
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