Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al. in 1970. It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine. Symptoms
Symptoms for the disease include microcephaly, a low birth weight, dwarfism, small teeth, and diabetes. The symptoms of Stimmler syndrome are closely related to a disease studied by Haworth et al. in 1967 as well as Leigh subacute necrotizing encephalopathy with lactic acidosis

Pathophysiology
Stimmler syndrome is an autosomal recessive genetic disorder whose symptoms appear before birth or during infancy. In a study of two sisters born within a year of each other, both with Stimmler syndrome, it was found that high levels of alanine, pyruvate, and lactate were present in both the blood and urine. It was believed that the alanine was derived from the pyruvate. Diagnosis
Treatment
References


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These include effort-based tests such as grip and pinch strength, diagnostic tests such as Finkelsteins test for De Quervains tendinitis, Phalens contortion, Tinels percussion for carpal tunnel syndrome, and nerve conduction velocity tests that show nerve compression in the wrist. Various imaging techniques can also be used to show nerve compression such as x-ray for the wrist, and MRI for the thoracic outlet and cervico-brachial areas. Utilization of routine imaging  is useful in early detection and treatment of overuse injuries in at risk populations, which is important in preventing long term adverse effects. Treatment
There are no quick fixes for RSI. Early diagnosis is critical to limiting damage. For Upper Limb Repetitive Strain Injury (RSI), Occupational Therapists create interventions that include education to facilitate ergonomics. This will minimize the possibility of an upper limb strain injury by learning the correct approach during facilitating functional task movements. The RICE treatment is used as the first treatment for many muscle strains, ligament sprains, or other bruises and injuries. RICE is used immediately after an injury happens and for the first 24 to 48 hours after the injury. These modalities can help reduce the swelling and pain. Commonly prescribed treatments for early-stage RSIs include analgesics, myofeedback, biofeedback, physical therapy, relaxation, and ultrasound therapy. Low-grade RSIs can sometimes resolve themselves if treatments begin shortly after the onset of symptoms. However, some RSIs may require more aggressive intervention including surgery and can persist for years.Although there are no "quick fixes" for RSI, there are effective approaches to its treatment and prevention.