G71.036

Clinical Causes: Genetic mutations in the FKRP gene, which provides instructions for making a protein involved in muscle cell structure and function. Inheritance pattern is typically autosomal recessive, meaning a person must inherit two copies of the mutated gene—one from each parent—to develop the condition. Mutations lead to a deficiency or dysfunction of the FKRP protein, impairing muscle cell stability and regeneration.

Key Symptoms: Progressive difficulty with muscle strength primarily in the hips, thighs, shoulders, and upper arms. Muscle weakness that worsens over time, impacting mobility and daily activities. Fatigue and decreased stamina during physical exertion. Difficulty climbing stairs, standing up from a seated position, or lifting objects. Possible muscle cramps and stiffness. In some cases, cardiomyopathy or heart muscle involvement may develop, affecting cardiac function.

Diagnosis Path: Detailed patient history and physical examination focusing on muscle strength and mobility. Electromyography (EMG) tests to assess muscle electrical activity. Blood tests measuring muscle enzymes such as creatine kinase (CK), which may be elevated. Muscle biopsy to examine muscle tissue for characteristic changes associated with dystrophy. Genetic testing to identify mutations in the FKRP gene, confirming the diagnosis.

Treatment Protocols: Currently, there is no cure for LGMD due to FKRP deficiency, so treatment focuses on managing symptoms and maintaining quality of life. Physical therapy plays a crucial role in preserving muscle strength and preventing contractures. Assistive devices such as braces, canes, or wheelchairs may be necessary as mobility declines. Regular cardiovascular monitoring, especially if heart involvement is suspected. Respiratory support options for advanced stages, such as ventilatory support if breathing becomes compromised. Experimental therapies and clinical trials are ongoing, aiming to find targeted treatments for this condition.