1. Unusual type of neural muscular atrophy with a possible X-chromosomal inheritance pattern
- Author
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Svein Ivar Mellgren, H. Skre, P. Bergsholm, and J. E. Slagsvold
- Subjects
Adult ,Male ,X Chromosome ,Adolescent ,Offspring ,Cousin ,Genes, Recessive ,Biology ,Atrophy ,medicine ,Chromosomal inheritance ,Humans ,Index case ,Wasting ,Phenocopy ,Sex Chromosomes ,Muscles ,Peroneal muscular atrophy ,General Medicine ,Anatomy ,medicine.disease ,Pedigree ,Muscular Atrophy ,Neurology ,Female ,Neurology (clinical) ,medicine.symptom - Abstract
In a large family five affected males belonging to four different kinships exhibited a muscle wasting of varying degree and with a predominantly proximal distribution. The index case had a facio-scapulo-humeral and peroneal muscular atrophy, whereas one of his cousins suffered a more generalized involvement starting in infancy and similar to Werdnig-Hoffman disease. The other affected family members had only slight changes. The index case and his affected brother had a positive Babinski sign. In enzyme histochemical preparations, specimens from the index case showed small group atrophy of type 2 fibers along with pseudomyopathic changes (whorled and coiled fibers, splitting) of type 1 fibers. Similar findings were observed in his cousin. Ultrastructural investigation gave no further information. Since all patients were males and the offspring of unaffected sisters, an X-chromosomal mode of transmission is proposed for this illness.
- Published
- 1978