Clinical evolution in patients with autosomal recessive limb-girdle muscular dystrophy (LGMDR5): A Tunisian cohort

Objectifs: Our aim is to determine the clinical evolutionary profile of Tunisian patients with confirmed genetic diagnosis of LGMDR5( LGMD2C). Methods: Amoung 41patients followed with LGMDR, 13patients belong to 6 families were confirmed with a genetic diagnosis of LGMDR5. We prospectively evaluate mobility, pulmonary and cardiac function for 10patients. 3 medical files had missing data. Mobility was assessed using the Vignos scale and time to loss of walking. Pulmonary and cardiac functions by respectively lung function tests and echocardiography. Results: LGMDR5 represents 32% of LGMDR in our department. The average age of onset of the disease was 8 years (4-11) while the average time between onset of symptoms and consultation was 2,7 years (1-7). At the initial clinical examination, proximal lower limb deficit was noted in 100%, proximal amyotrophy 20%, pseudo calf hypertrophy 50%. The mean Vignos Scale was estimated around 2,8 (1-3). CPK levels >200N. During the evolution, a walk with bilateral assistance was noted in 70% after an interval of 5,5 years (3-8), complete loss of walk in 40% after an interval of 12 years (8-17), scoliosis and equinus foot deformities were noted respectively in 60% and 70% with mean time of 5,5 years (1-8y) and 6,8 years(1-10y). Respiratory difficulty was noted for 3 patients after mean time of 9,6years(7-11y). No cardic abnormalities were reported. Conclusion: LGMDR5 is the most frequent type of LGMD in Tunisia. Otherwise, an early management is needed in order to limit the late effects of the disease and to have a comfortable living.