The syndrome was first described in 1962 by American ophthalmologist Oscar Schwartz and American neuro-ophthalmologist Robert Steven Jampel. Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. Malignant hyperthermia, a potential complication of surgery, is a greater risk for people Schwartz–Jampel syndrome and an important consideration when considering surgery.
Otherwise, a variety of surgical procedures have been found to be effective. Eye symptoms such as blepharospasm might be relieved by Botox. Muscle relaxants or anti-seizure medications, especially carbamazepine, may be used. Treatment is aimed at reducing muscle stiffness and cramping and may include massage, muscle warming and gradual strengthening exercises. There is no cure for Schwartz–Jampel syndrome. Genetic testing for the HSPG2 gene may confirm diagnosis. X-rays, muscle biopsy or electromyography (EMG) may be useful. Blood tests may show elevated serum creatine kinase or aldolase. Schwartz–Jampel syndrome is diagnosed on the basis of characteristic facial features, skeletal features and myotonia.
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Some signs and symptoms that are frequently exhibited in patients with SJS include epiphyseal abnormalities, metaphyseal abnormalities, arthrogryposis multiplex congenita, bowing of long bones, a protruding lower lip, full cheeks, a disturbed gait, genu valgum, hip dysplasia, hypertonia, intellectual disability, joint stiffness, low-set posteriorly-rotated ears, metatarsus valgus, micromelia, myotonia, narrow mouth, flat foot, pursed lips, short stature, skeletal dysplasia, trismus, and visual impairment. The condition is believed to follow an autosomal recessive inheritance pattern, although some reported cases suggest an autosomal dominant inheritance pattern. If acetylcholine is not broken down, it can lead to prolonged muscle contraction/stiffening of the muscles ( myotonia). In Schwartz–Jampel syndrome, it is suspected that abnormal perlecan function leads to a deficiency in acetylcholinesterase, an enzyme involved in breaking down the neurotransmitter acetylcholine, which incites muscle contraction. Relationships between the disease and perlecan deficiency have been studied. Schwartz–Jampel syndrome is caused by mutations in the HSPG2 gene, which makes the protein perlecan, which is found in muscle and cartilage. Schwartz–Jampel syndrome (SJS, also known as chondrodystrophic myotonia) is a rare genetic disease caused by a mutation in the perlecan gene ( HSPG2) which causes osteochondrodysplasia associated with myotonia. Schwartz–Jampel syndrome is inherited in an autosomal recessive manner. Medical condition Schwartz–Jampel syndrome
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