Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy
| Autor: | Wolfram Kress, Josef Müller-Höcker, Peter Schneiderat, Benedikt Schoser, Nicolai Schramm, Joachim Weis, N. Strigl-Pill, Hanns Lochmüller, Maggie C. Walter, Andreas Ferbert, Sabine Rudnik-Schöneborn, Peter Reilich, Johannes Noth |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male musculoskeletal diseases congenital hereditary and neonatal diseases and abnormalities Genotype DNA Mutational Analysis Muscle Fibers Skeletal Diagnosis Differential Atrophy Humans Medicine Facioscapulohumeral muscular dystrophy Genetic Predisposition to Disease Genetic Testing Muscular dystrophy Muscle Skeletal Myopathy Aged Leg business.industry Rimmed vacuoles Autosomal dominant trait Anatomy Middle Aged medicine.disease Muscular Dystrophy Facioscapulohumeral Facial muscles Phenotype medicine.anatomical_structure Neurology Mutation Vacuoles Distal Myopathies Female Neurology (clinical) Chromosomes Human Pair 4 medicine.symptom business |
| Zdroj: | Journal of Neurology. 257:1108-1118 |
| ISSN: | 1432-1459 0340-5354 |
| DOI: | 10.1007/s00415-010-5471-1 |
| Popis: | Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically confirmed FSHD patients exhibit unspecific morphological signs of a degenerative myopathy. We report on five unrelated patients who carried the pathogenic FSHD mutation on chromosome 4q35. Muscle biopsies revealed numerous rimmed vacuoles and filamentous cytoplasmic inclusions in all cases. Clinically, the patients suffered from weakness and atrophy predominantly of the lower limb muscles. In conclusion, we suggest considering FSHD in the differential diagnosis of adult-onset distal myopathies with rimmed vacuoles. |
| Databáze: | OpenAIRE |
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