[Articulation disorder as the initial manifestation of facioscapulohumeral muscular dystrophy in childhood].
A five year old boy who had received logopedic treatment for more than two years was seen as an outpatient because of speech retardation. He presented with myopathic face, incomplete closure of both lids and severe weakness of facial muscles, bilateral winging of scapulae and hyperlordosis. Extraocular and pharyngeal muscles were not affected. Motor and sensory nerve fibre conductions and electromyography were within normal limits. CPK was moderately elevated (320 U/I). Muscle biopsy of right deltoid muscle revealed unspecific myopathic changes. The patients brother aged 7 also presented with facial weakness, elevated CPK and neurogenic changes in EMG of deltoid muscle. Both parents were clinically and electrophysiologically unremarkable. Although problems to speak distinctly are usually not the first manifestation, we found in this family facio-scapulo-humeral muscular dystrophy.
Lischka
A
A
Grisold
W
W
Weninger
M
M
Toifl
K
K
Tatzer
E
E
D001132:Arm; D001184:Articulation Disorders / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004576:Electromyography; D005152:Facial Muscles; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D012540:Scapula
Artikulationsstörung als Erstmanifestation einer facioscapulohumeralen Muskel-dystrophie im Kindesalter.