Skip to main content
  Sign In   Register

ePoster Presentations Proceedings »

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.
Keywords: Child, muscular disorders, LGMD

wafa bouchaala
departement of pediatric neurology
Tunisia

sirine Frikha
Departement of pediatric neurology
Tunisia

Sihem Ben Ncir
Departement of pediatric neurology
Tunisia

Salma Zouari
Departement of pediatric neurology
Tunisia

Olfa Jallouli
Departement of pediatric neurology
Tunisia

Fatma kamoun
Departement of pediatric neurology
Tunisia

Faiza Fakhfakh
Faculty of Science of Sfax
Tunisia

Chahnez Triki
Departement of pediatric neurology
Tunisia

 

 


®2002-2021 ICNApedia