Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study
| Autor: | W. H. J. P. Linssen, Rumaisa Bashir, Sari Kiuru-Enari, Marianne de Visser, Ibrahim Mahjneh, Antti Lamminen |
|---|---|
| Přispěvatelé: | Neurology |
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
DNA Mutational Analysis
Anoctamins Biceps 030218 nuclear medicine & medical imaging 03 medical and health sciences 0302 clinical medicine Chloride Channels Fascia lata Image Processing Computer-Assisted Humans Medicine Genetic Predisposition to Disease Muscular dystrophy Muscle Skeletal Myopathy Genetics (clinical) Aged Retrospective Studies Muscle mri biology business.industry Gluteus minimus Anatomy Middle Aged biology.organism_classification medicine.disease musculoskeletal system Magnetic Resonance Imaging Distal Myopathies medicine.anatomical_structure Neurology Mutation Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom Differential diagnosis business Distal muscular dystrophy 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular disorders, 22(2), S130-S136. Elsevier Limited |
| ISSN: | 0960-8966 |
| Popis: | Anoctaminopathy is a new muscular dystrophy caused by mutations in the ANO5 gene. ANO5 mutations cause distal and proximal phenotypes. We report here a follow-up muscle MRI study on five patients affected by distal form of anoctaminopathy. T1 weighted scans showed subsequent involvement of gastrocnemius medialis and soleus, hip adductors, hamstrings, gastrocnemius lateralis and quadriceps muscles, and later on tensor fascia lata, gluteus minimus and biceps brachii muscles, respectively. The STIR weighted images showed in the early stages widely distributed hyperintense signals, myoedema, in the adductors, hamstrings, and quadriceps muscles, which at that time have normal T1 signals. All patients showed asymmetry of muscle involvement both clinically and on muscle imaging. The progression of muscle involvement was relatively slow. We conclude that the pattern of muscle involvement seen in patients with distal myopathy with anoctamin 5 mutations (MMD3) is typical and can thus be useful during the differential diagnosis process allowing for a more targeted molecular approach. (c) 2012 Elsevier B.V. All rights reserved |
| Databáze: | OpenAIRE |
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