Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.
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.
Reilich
Peter
P
Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilian University of Munich, Ziemssenstr. 1, Munich, Germany.
Schramm
Nicolai
N
Schoser
Benedikt
B
Schneiderat
Peter
P
Strigl-Pill
Nicola
N
Müller-Höcker
Josef
J
Kress
Wolfram
W
Ferbert
Andreas
A
Rudnik-Schöneborn
Sabine
S
Noth
Johannes
J
Lochmüller
Hanns
H
Weis
Joachim
J
Walter
Maggie C
MC
D000328:Adult; D000368:Aged; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007866:Leg / Q000473:pathology* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D014617:Vacuoles / Q000473:pathology / Q000648:ultrastructure