Congenital muscular dystrophy due to laminin α2 (merosin) deficiency (MDC1A) in an ethnic Malay girl
- Author:
MK Thong
;
Sofiah Ali
;
YE Park
;
DS Kim
;
KJ Goh
;
KT Wong
- Publication Type:Case Reports
- Keywords:
laminin alpha-2 deficiency;
merosin deficiency LAMA2;
Malaysia;
congenital muscular dystrophy;
MDC1A
- From:Neurology Asia
2017;22(2):155-159
- CountryMalaysia
- Language:English
-
Abstract:
We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A),
a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The
21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower
limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but
good cognitive functions. Serum creatine kinase was elevated and white matter changes were detected
in the brain MRI. Muscle biopsy showed dystrophic changes with complete laminin α2 deficiency
by immunohistochemistry. Mutation analysis of LAMA2 showed compound heterozygote at exon 21,
c.2888delG(p.Gly963Alafs*111) and exon 34, c.4886dupC(p.Pro1629Profs*40) leading to premature
stop codon for each of the frameshift mutations. Patient review at seven years of age showed satisfactory
cognitive functions despite having contractures and weakness. Genetic testing of LAMA2 related
muscular dystrophy facilitated the earlier diagnosis of MDC1A and genetic counselling for this family.
MDC1A
- Full text:W020170710343945103921.pdf
