ABSTRACT
Emery-Dreifuss muscular dystrophy is characterised by a slowly progressive muscle weakness in a humero-peroneal distribution, early contractures, and cardiomyopathy. This study describes the characteristics and genetics of this syndrome in family of four male siblings all of whom were affected by the disorder. An 11 year old boy presented with muscle weakness and wasting in a humero-peroneal distribution, absent tendon reflexes, elbow contractures and elevation of creative kinase [CK] without cardiac involvement. Three asymptomatic male siblings were also found to have evidence of the syndrome. The father and two other paternal relatives of these siblings had persistently raised creative kinase levels without evidence of muscle weakness or cardiomyopathy. There was no evidence of the disorder on the maternal side. Clinically the pedigree was consistent with either X-linked recessive inheritance or could also represent autosomal dominant inheritance. Molecular genetic studies were carried out to confirm the pattern of inheritance. The marker st14 is closely linked to Emery-Dreifuss muscular dystrophy. All four boys and their mother had the same pattern, therefore confirming that all siblings had inherited the same maternal allele, strongly supporting sex linked recessive inheritance. This was virtually confirmed by further analysis which showed that all 4 boys had the same maternal allele for an informative microsatellite marker in intron 13 of the factor 8 coagulant gene
Subject(s)
Humans , Male , Genetic Diseases, Inborn , X Chromosome , /genetics , Muscle WeaknessABSTRACT
The man in the barrel syndrome [MIBS] is charactcrised by weakness of both arms with normal functioning of legs and is usually associated with a high mortality. A 75 year old man developed MIBS with ocular motor apraxia following a left carotid endarterectomy. Over the next six month there was good functional recovery of the arms and ocular movements. At one year follow up there had been almost complete recovery