Early onset distal muscular dystrophy
| Autor: | Ikuya Nonaka, Hirotoshi Kinoshita, Yu-ichi Goto, Kenji Sugai |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Male
musculoskeletal diseases Adolescent Biopsy Biceps Muscular Dystrophies Atrophy Developmental Neuroscience Humans Medicine Age of Onset Muscular dystrophy Muscle Skeletal Muscle contracture Leg Muscle biopsy medicine.diagnostic_test business.industry Progressive distal muscle weakness Muscle weakness General Medicine Anatomy medicine.disease Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom Tomography X-Ray Computed business Distal muscular dystrophy |
| Zdroj: | Brain and Development. 17:206-209 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/0387-7604(95)00027-9 |
| Popis: | A 14-year-old Chinese boy, who first became aware of muscle weakness in the lower limbs at 6 years of age, had progressive distal muscle weakness and atrophy, predominantly in the lower leg muscles. He exhibited reduced ankle dorsiflexion and tended to walk on his toes, showing preferential anterior tibial muscle involvement. Laboratory examination revealed a moderately elevated serum creatine kinase level of 905 IU/l. Computed tomographic scanning of muscle disclosed low density areas in the lower legs. A muscle biopsy specimen from the biceps brachii revealed mild dystrophic changes. We made a diagnosis of distal muscular dystrophy based on these findings, but could not classify it as one of the previously reported forms. The symptoms mimicked those of tibial muscular dystrophy, though the onset of the disease is far earlier than the previously described ones of distal muscular dystrophies. It remains unknown whether this patient has a new type of distal muscular dystrophy, or a variant form of the Miyoshi type or tibial muscular dystrophy. |
| Databáze: | OpenAIRE |
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