Autosomal recessive limb girdle myasthenia in two sisters.
Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sisters affected by this disorder is presented.
Shankar
A
A
Department of Neurological Sciences, Christian Medical College and Hospital, Vellore - 632 004, India.
Solomon
T
T
Joseph
T P
TP
Gnanamuthu
C
C
D000293:Adolescent; D000328:Adult; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D004491:Edrophonium / Q000627:therapeutic use; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D018908:Muscle Weakness / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D009157:Myasthenia Gravis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D011729:Pyridostigmine Bromide / Q000627:therapeutic use
D002800:Cholinesterase Inhibitors; D004491:Edrophonium; D011729:Pyridostigmine Bromide