Two cases of Becker's muscular Dystrophy
Abstract
Becker's muscular Dystrophy is an Xlinked
recessive disorder results from allelic
defects of the gene that encodes
dystrophin, a 427-kDa protein localized
to the inner surface of the sarcolemma of
the muscle fibre. It is less frequent than
Duchennes and women may be affected
due to mosaicism. We present two cases
of Beckers muscular dystrophy in a
brother and sister. They presented with
weakness of proximal muscles of both
upper and lower limbs. The CPK levels
were markedly elevated. The EMG
showed mixed myopathic pattern in
proximal muscles of lower limbs and the
Nerve conduction studies were normal.
Mucsle biopsy confirmed the diagnosis
by focal atrophy and replacement by
fatty and fibrous tissue.
Full Text:
PDFReferences
Harrison’s Principles of Internal Medicine,
th edition.
Adams and Victor’s Principles of neurology
Dystrophinopathies by Basil T Darras,
MD David T Miller, MD, PhD, David k
Urion, MD
Beggs AH. Dystrophinopathy, the expanding
phenotype. Dystrophin abnormalities
in X-linked dilated cardiomyopathy.
Circulation. 1997; 95:2344
Darras BT. Treatment of Duchenne and
Becker muscular dystrophy. In: Patterson
MC, Dashe JF, eds. UpToDate.
Philadelphia: Wolters Kluwer Health
Refbacks
- There are currently no refbacks.
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
An initiative of The Tamil Nadu Dr M.G.R. Medical University