![]() The disease appears to stabilize after adolescence and does not affect life span.(Osteochondromuscular dystrophy, chondrodysplasic or chondrodystrophic myotonia) Progressively worsening blepharospasm is an important morbidity that can interfere with vision. Malignant hyperthermia is a potentially lethal complication of anesthesia. Botulinum toxin A injections for blepharospasm has been reported with limited and variable results Rarely, surgical intervention is considered for blepharospasm including orbicularis oculi myectomy or levator aponeurosis resection improve functional and cosmetic outcome. Physical therapy is important to prevent contracture formation and fixed skeletal deformity. Medical treatment with muscle relaxants and antiepileptic drugs, such as carbamazepine, phenytoin, or procainamide, aimed to alleviate myotonia has limited usage, although early initiation of treatment may limit the extent of disability. The management of patients with SJS is primarily supportive and best offered by a team comprising a neurologist, a geneticist, a physical therapist, an orthopedic surgeon, an ophthalmologist and a psychologist. Genetic counseling should be offered to affected families, informing them that the risk of disease transmission is 25% where both parents are unaffected carriers. Other differential diagnosis should include Freeman Sheldon and Marden Walker syndrome and, in cases with minimal skeletal abnormalities, myotonic disorders ( including myotonia congenita, myotonia permamens, and myotonic dystrophy). Schwartz-Jampel syndrome (SJS) is non-allelic with Stuve-Wiedemann syndrome, a severe skeletal dysplasia that is typically fatal during the neonatal period and was formerly described as SJS type 2. Diagnostic methodsÄiagnosis is established by demonstration of both myotonia via electromyography and chondrodysplasia via radiographs. HSPG2 encodes perlecan, a major component of the cellular matrix that plays an important role in maintaining cartilaginous tissue integrity and regulating muscle excitability. Loss of function mutations in HSPG2 (1p36) are causative. Rarely, myopia, inguinal and umbilical hernias and micro-orchidism have been reported. Joint stiffness is progressive, reaching its peak during adolescence The severity of chondrodysplasia is variable and may consist of flattening of the vertebral bodies, hip dysplasia, metaphyseal widening, slender diaphyses, kypho-scoliosis, multiple joint contractures and bowing of long bones. Limited joint mobility leads to an unsteady gait. The myotonia is characterized by continuous muscle activity recorded on electroneuromyography. Micrognathia, low-set ears with folded helices and dystopia canthorum have also been reported. Facial features consist of blepharospasm, progressive blepharophimosis, pursed lips and a puckered chin. ![]() Presentation is typically by 1 year to 2 years of age, but may occur earlier, with myotonia, maske-like facies, short stature, non-progressive muscle weakness, muscle hypertrophy, progressive restriction of range of motion and paucity of subcutaneous tissue. Approximately, 130 cases have been described in the literature to date. ![]()
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