BOF: 41 (2.32)
A 32-year-old female has a slowly progressive difficulty
in climbing stairs and getting up from the seated position. On examination
there is evidence of proximal muscular weakness affecting the pelvic girdle
more than the shoulder girdle. She undergoes many investigations and
ultimately a muscle biopsy is performed and this shows large vacuoles, which
stain positive for periodic acid-Schiff stain.
This patient has:
a)
Becker muscular dystrophy
b)
Duchenne muscular dystrophy
c)
Polymyositis
d)
Polymyalgia rheumatica
e)
Acid maltase deficiency
Answer:
e)
Acid maltase deficiency is an autosomal recessive
condition. In the adult form onset is in the second and third decade of life.
It affects proximal muscles rather than the distal and the pelvic girdle is
affected more than the shoulder. The large vacuoles that are seen on muscle
biopsy are lysosomes full of glycogen.
Becker and Duchenne muscular dystrophies are X-linked
conditions and hence not likely to affect females. Polymyositis causes
inflammation of muscles and polymyalgia rheumatica is a disease that
predominantly affects more elderly patients.
