Genetic Test To Identify The Cause Of Reduced Exercise Tolerance

HISTORY: A 40-year-old woman reported excessive fatigue and body aches, muscle weakness and nocturnal cramps after physical exercise. She reported that the symptoms occur regularly but worsen significantly on the days she exercises, making it impossible to exercise. In addition to the symptoms mentioned, she reported difficulties in reducing body fat and building muscle mass. PHYSICAL EXAMINATION: The physical examination revealed the presence of some bruises on the lower limbs. A bioimpedance assessment was performed, which revealed a eutrophic BMI (23.35 kg/m2), increased fat percentage (35.07%) and low muscle mass (21.5 kg). DIFFERENTIAL DIAGNOSIS: Fibromyalgia TEST AND RESULTS: Biochemical tests were requested to check the health parameters. - A moderate increase in creatine kinase (CK) was the only biological sign observed. - A predictive genetic test was requested to analyze the sports profile. - The genetic test showed the presence of the homozygous C34T mutation in the AMPD1 gene. - AMPD1 gene encodes the adenosine monophosphate deaminase enzyme. - This enzyme is present in the muscles used for movement (skeletal muscles), where it plays a role in energy production. FINAL/WORKING DIAGNOSIS: Adenosine monophosphate deaminase deficiency (AMPD1 Deficiency) TREATMENT AND OUTCOMES: 1. Oral administration of ribose at a dose of 0.2 g/kg body weight per day. 2. Administration of creatine at a dose of 3 grams per day, in the morning. 3. Modulation of the exercises with professional support, longer intervals between training sessions and monitoring of the load development. 4. The pain and fatigue parameters improved significantly after 7 days of treatment. 5. The cramps disappeared completely on the tenth day of treatment. 6. After 8 months of treatment, there was an increase in muscle mass of 2.2 kg (23,7 kg) without any change in fat percentage.