[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
Hauptmann-Thannhauser muscular dystrophy is characterized by the clinical triad of early-onset contractures of elbow, Achilles tendons, and cervical spine, slowly progressive humeroperoneal muscle wasting and weakness, and life-threatening cardiac involvement with conduction blocks manifesting in the third decade. Hauptmann-Thannhauser muscular dystrophy is due to mutations in the LMNA gene affecting the nuclear envelope proteins lamin A and C. We present a 16-year-old German boy with typical muscular involvement and contractures and typical course of Hauptmann-Thannhauser muscular dystrophy due to the novel missense mutation R401C. The data of this family suggest a lower penetrance of muscular and especially cardiac symptoms than expected. Autosomal-dominant Hauptmann-Thannhauser muscular dystrophy and X-chromosomal Emery-Dreifuss muscular dystrophy are not clearly distinguishable by phenotypic criteria. Other muscular diseases associated with contractures and congenital or childhood onset are reviewed.
Hanisch
F
F
Klinik und Poliklinik für Neurologie der Martin-Luther-Universität Halle-Wittenberg, Germany. frank.hanisch@medizin.uni-halle.de
Neudecker
S
S
Wehnert
M
M
Zierz
S
S
D000293:Adolescent; D001706:Biopsy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics; D002467:Cell Nucleus / Q000473:pathology; D003286:Contracture / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D009460:Neurologic Examination; D009687:Nuclear Proteins; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D013946:Thymopoietins / Q000235:genetics
D034904:Lamin Type A; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin; C440308:lamin C