Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency
| Autor: | Heinz Reichmann, T. Grimm, Hans-Hilmar Goebel, Wolfram Kress, H. Porschke |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Proband Pathology medicine.medical_specialty Weakness Genetic Linkage Biopsy Biology Muscular Dystrophies Oculopharyngeal muscular dystrophy Sural Nerve Pathognomonic Genetic linkage Carnitine Germany medicine Humans Genetics (clinical) Aged Chromosomes Human Pair 14 Family Health Genetics Electromyography Haplotype Middle Aged medicine.disease Dysphagia Mitochondria Pedigree Microscopy Electron Phenotype Neurology Oculomotor Muscles Pediatrics Perinatology and Child Health Pharyngeal Muscles Female Neurology (clinical) medicine.symptom medicine.drug |
| Zdroj: | Neuromuscular Disorders. 7:S57-S62 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/s0960-8966(97)00084-9 |
| Popis: | We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle biopsies showed the pathognomonic ultrastructural finding of characteristic intranuclear filaments. Linkage analysis confirmed that this family is also linked to chromosome 14q markers. Haplotype analysis revealed that a unique haplotype segregates with the disease which is different from the one found in French-Canadian OPMD. Although approximately half of the probands with OPMD showed mild clinical and neurophysiological signs of a distal symmetrical neuropathy, the association between the neurogenic lesions and OPMD is still unclear. Some family members with or without OPMD complained of exercise related muscle pain, and a lipid storage myopathy with low muscular carnitine concentrations was found, while the carnitine contents in blood and urine samples as well as the activity of the carnitine-palmitoyl-transferase were normal, fitting the pattern of a primary muscular carnitine deficiency, independent of OPMD. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect