MUSCULAR DYSTROPHIES

Abstract

Objectives: Muscular dystrophies are classified into different types based ontheir age of onset, clinical severity, rate of progression, distribution of muscles weakness,pattern of inheritance and the genes involved. As muscular dystrophies are relativelyuncommon disorders, very little work has been done in Pakistan. This study has classified (forthe first time in Pakistan) the patients with different types of muscular dystrophies by clinicaland biochemical correlation. Study Design: Observational, descriptive study. Setting:Departments of Morbid Anatomy and Histopathology and Human Genetics and MolecularBiology at University of Health Sciences Lahore. Period: Three years’ (March, 2012-March2015). Methodology: A total of 100 patients comprising of all age groups and both gendersand with strong clinical suspicion of muscular dystrophy, with or without positive family history,were included. Detailed clinical history and physical examination findings were recordedfollowed by estimation of serum Creatine Phosphokinase (CPK), Lactate Dehyrogenase(LDH) and Aldolase levels. Results: A total of 77 males (M) and 23 females (F) were included.Mean age of the patients was 12.1990 + 6.69913 years. Parents of 76 patients reported withconsanguineous marriages while positive family history was reported in 31 patients. Eightytwo cases managed to ambulate with support of other persons while n= 14 patients weretotally non ambulatory. Symmetrical muscle involvement (lower limb followed by upper limb)was shown by 87 cases (including all males and n=22 females). Involvement of the lowerlimbs as a primary weakness followed by symmetrical and severe involvement of the upperlimb girdle and lower limb girdle suggested limb girdle muscle dystrophy (LGMD) in 9 (6F,3M)patients. Involvement of shoulders and upper limbs as a primary weakness followed by facialmuscles and infrequent involvement of lower limbs suggested fascioscapulohumeral muscledystrophy (FSHMD) in 2 cases. Involvement of upper limbs as a primary weakness followedby lower limbs with a moderate rise in CPK levels and mild phenotype was seen in two femalepatient which was quite suggestive of dysferlinopathy. Only two male patients reported onsetof weakness and ambulation loss before 1 year of age that may represent congenital muscledystrophy (CMD), dystroglycanopathy or congenital onset of LGMD (cLGMD). Mean serumCPK, LDH and Aldolase levels were 2376.6364 + 910.78963 U/L, 1030.7800 + 180.1620 U/Land 10.089 + 1.525 U/L respectively that demonstrated significant association (p<0.05) withcharacteristic clinical features. Conclusion: Muscular dystrophies are not only restrictedto dystrophinopathies in our population. Apart from clinical and biochemical parameters,appropriate histological and/or gene mutation analysis is mandatory for precise classificationof these disorders.