Zusammenfassung
Die fazioskapulohumerale Muskeldystrophie (FSHD) ist durch eine Schwäche der mimischen Muskulatur und des Schultergürtels gekennzeichnet und beginnt meist im frühen Erwachsenenalter. Bei milden Verläufen kann sich die Erkrankung auch erst im höheren Lebensalter manifestieren. Die FSHD folgt einem autosomal-dominanten Erbgang. De-novo-Mutationen sind selten und manifestieren sich dann als kindliche Form. Ein skapuloperonealer Subtyp ohne Beteiligung der Gesichtsmuskulatur ist bekannt. Wir berichten über 2 Fälle einer genetisch gesicherten FSHD mit ausschließlichem Befall der paraspinalen Muskulatur. In beiden Fällen war das paraspinale EMG richtungsweisend bezüglich der Zuordnung der Kamptokormie zu einem primär myogenen Prozess. Der CK-Wert war in beiden Fällen auf das 1,5–2-fache der Norm erhöht. Die Diagnosesicherung erfolgte molekulargenetisch mit Nachweis einer Deletion des D4Z4 Lokus (FSHD repeat) auf Chromosom 4q35. Schlussfolgerungen sind: Bei älteren Patienten mit Kamptokormie oder propulsivem Gang sollte differenzialdiagnostisch neben bekannten Ursachen (enger Spinalkanal, Osteoporose, M. Parkinson, M. Bechterew, Dystonie) auch an das Vorliegen einer primären Muskelerkrankung gedacht werden, wobei die Gruppe der Myopathien mit paraspinaler Manifestation um die FSHD ergänzt werden muss.
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is inherited as an autosomal dominant trait and is characterised by facial and shoulder girdle weakness usually appearing in early adulthood. In milder cases, clinical signs may not become apparent before late adulthood. A scapuloperoneal subtype sparing the facial muscles has been reported. We present 2 cases of genetically confirmed FSHD with a distinct phenotype solely affecting the paraspinal muscles. In both patients, needle electromyography revealed pathological spontaneous activity in the paraspinal muscles. Laboratory examinations showed normal or slightly elevated CPK levels. The clinical diagnosis was confirmed by DNA testing which revealed restriction fragments consistent with a D4Z4 repeat contraction on chromosome 4q35. The following conclusions can be drawn: i) Patients with FSHD may present with a phenotype of isolated paraspinal myopathy. ii) Besides other underlying causes (spinal canal stenosis, osteoporosis, Parkinson disease, ankylosing spondylitis, dystonia), the diagnosis of FSHD should be considered in cases with camptocormia.
Schlüsselwörter
fazioskapulohumerale Muskeldystrophie - Kamptokormie - propulsiver Gang - paraspinale Muskelatrophie
Key words
facioscapulohumeral muscular dystrophy - camptocormia - bent spine syndrome - paraspinal muscular atrophy
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Korrespondenzadresse
Prof. Dr. F. X. Glocker
MediClin Seidel-Klinik
Hebelweg 4
79415 Bad Bellingen
eMail: franz.glocker@uniklinik-freiburg.de
