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.
Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilian University of Munich, Ziemssenstr. 1, Munich, Germany.
Peter
P
Reilich
Nicolai
N
Schramm
Benedikt
B
Schoser
Peter
P
Schneiderat
Nicola
N
Strigl-Pill
Josef
J
Müller-Höcker
Wolfram
W
Kress
Andreas
A
Ferbert
Sabine
S
Rudnik-Schöneborn
Johannes
J
Noth
Hanns
H
Lochmüller
Joachim
J
Weis
Maggie C
MC
Walter
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