Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs.

Abstract

We report on sibs with scleroatonic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone deficiency were noted during follow-up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.

• Authors: E Ricci, E Bertini, R Boldrini, M Sabatelli, S Servidei, M R Mazziotta, C Bosman, P Tonali
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 31 Issue 4 Pg. 933-42 (Dec 1988) ISSN: 0148-7299 [Print] United States
• PMID: 3239582 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Child
• Female
• Humans
• Male
• Muscles (pathology)
• Muscular Dystrophies (genetics, pathology)
• Sclerosis
• Spinal Cord (pathology)