1. COHORT OF LIMB GIRDLE MUSCULAR DYSTROPHY FROM SOUTHERN INDIA
Sukanya V1, Vykuntaraju K Gowda1, Gayathri2, Asha Benakappa1
1Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore
2 Department of Neuropathology, NIMHANS, Bangalore.
Results
Introduction
Limb girdle muscular dystrophies are a group of heterogeneous disorders characterized by progressive muscle weakness with autosomal patterns of inheritance
Phenotype of LGMD typically presents with
-predominant symmetrical, proximal muscle weakness
- raised serum creatine kinase
-a necrotic regenerative pattern of muscles on muscle biopsy.
LGMDs are divided into
-autosomal dominant (LGMD1) and autosomal recessive (LGMD2) disorders .
-an additional lettering system denotes the chronological order of chromosomal linkage
(thus, 1A -1H for autosomal dominant LGMD and
2A -2N for autosomal recessive LGMD)
Other typical features/complications of LGMD
include cardiomyopathy, cardiac arrhythmias, scapular winging, calf hypertrophy, rigid spine and limb contractures.
Diagnosis relies on a combination of clinical assessment, specialised muscle immunoanalysis and genetic testing.
AGE-wise GENDER DISTRIBUTION
CLINICAL FEATURES/ FINDINGS
Number of PATIENTS(N=20)
PROXIMAL WEAKNESS 20
DISTAL WEAKNESS
NONE
UL INVOLVEMENT
5(25%)
CARDIAC/RESPIRATORY SYMPTOMS
DEVELOPMENTAL HISTORY
4 CHILDREN HAD MOTOR DELAY
1 CHILD HAD SPEECH DELAY
SYMMETRY
CALF MUSCLE HYPERTROPHY
14(70%)
GOWER’S SIGN
17(85%)
WINGING OF SCAPULA
4(20%)
FACIAL INVOLVEMENT
FAMILY HISTORY
POSITIVE IN 5 PATIENTS
CONSANGUINITY
8(40%)
INVESTIGATION FINDINGS
Number of PATIENTS(N=20)
SERUM CPK
GROSSLY ELEVATED( ALL 20 PATIENTS)
MUSCLE BIOPSY
SARCOGLYCANOPATHY(65%)
GENETIC STUDY
CAPN3( 25%)
ECHO
NORMAL STUDY( 75%)
Why this study?
There’s a paucity of data on studies reported on prevalence of LGMD in children in India and hence this retrospective study was undertaken.
Aims & Objective
Calf muscle hypertrophy
To study the clinical and laboratory characteristics of Limb Girdle Muscular dystrophy.
Methodology
STUDY DESIGN: Retrospective chart review
STUDY POPULATION:
All children with limb girdle muscular dystrophy (LGMD) from Jan 2013 to August 2017 were included in the study.
History, examination, and laboratory evaluation including serum creatine kinase, muscle biopsy with immunohistochemistry and genetic study results were analyzed.
Gower’s Sign
Discussion
Comparision with other studies
Clinical profile
Present
study (n=20)
MC Sharma(n=13)
Age group
4-18years
5-20y
Mean age of onset
10y
7.2y
Male:Female
0.8:1
1.1:1
Proximal muscle involvement
20(100%)
8(61.5%)
Distal muscle involvement
none
Calf hypertrophy
14(70%)
9(69.2%)
Gower’s sign
17(85%)
7(53%)
CPK
Sarcoglycanopathy(% of LGMD)
65%
11.8%
IHC on muscle biopsy
Negative staining for δ in 80%
Neg staining for Ƴ in 61.5%
Immunofluorescence analysis for dystrophin and the four sarcoglycan (SG) proteins in a control, and in one sarcoglycan-deficient patient (LGMD2C).
Conclusion
Limb girdle muscular dystrophy should be considered in males after excluding Duchenne muscular dystrophy.
LGMD is common type of muscular dystrophy in females.
Most common type of LGMD in children is Sarcoglycanopathy followed by Calpainopathy.
Immunohistochemistry is a useful tool in the diagnosis of sarcoglycanopathies.
Sarcoglycanopathy was the commonest LGMD in our study as compared to 11.8% by Sharma et al, and Khadilkar et al  (46.2%)
This high incidence could partly be attributed to high prevalence of consanguinity in this part of our country.
In the present series, isolated g and a-sarcoglycan deficiency was seen in 8 and 3 patients respectively, while absence of both a, g and all sarcoglycans in one patient each
References:
1. Sharma M C, Mannan R, Singh N G, Gulati S, Kalra V, Sarkar C. Sarcoglycanopathies: An enigmatic form of muscular dystrophy – A report of 7 cases. Neurol India 2004;52:446-9
2. Khadilkar SV et al Limb girdle muscular dystrophies in India. Neurol India 2008;  
3  Khadilkar SV, Singh RK, Katrak SM. Sarcoglycanopathies: A report of 25 cases. Neurol India 2002;50:27-32