title: Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome.
abstract: Juvenile muscular atrophy of the distal upper extremities (JMADUE) is a rare, sporadic disorder that affects adolescent males and is characterized by progressive but self-limited weakness of the distal upper extremities. The etiology is unknown, but cervical hyperflexion has been hypothesized.
  
  
  
  We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome.
  
  
  
  Subsequent diagnostic testing confirmed a diagnosis of JMADUE, and sequencing of the filamin-A gene showed a novel, pathogenic mutation that confirmed an additional diagnosis of X-linked periventricular heterotopias with features of Ehlers-Danlos syndrome (XLPH-EDS).
  
  
  
  The concurrent diagnosis of these 2 rare conditions suggests a pathogenic connection. It is likely that the joint hypermobility from XLPH-EDS predisposed this patient to developing JMADUE. This supports the cervical hyperflexion theory of pathogenesis. This case also expands the phenotype associated with FLNA mutations. Muscle Nerve 54: 794-797, 2016.
authors.affiliation: Department of Neurology, Section on Neuromuscular Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA. alovan@wakehealth.edu.
authors.forename: Alyson L
authors.initials: AL
authors.lastname: Hommel
authors.affiliation: Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
authors.forename: Tamison
authors.initials: T
authors.lastname: Jewett
authors.affiliation: Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
authors.forename: Megan
authors.initials: M
authors.lastname: Mortenson
authors.affiliation: Department of Neurology, Section on Neuromuscular Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
authors.forename: James B
authors.initials: JB
authors.lastname: Caress
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000503:physiopathology; D000293:Adolescent; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000503:physiopathology; D006801:Humans; D008297:Male; D054091:Periventricular Nodular Heterotopia / Q000150:complications / Q000000981:diagnostic imaging* / Q000503:physiopathology; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000000981:diagnostic imaging* / Q000503:physiopathology; D034941:Upper Extremity / Q000000981:diagnostic imaging* / Q000503:physiopathology
keywords: Ehlers-Danlos syndrome; Filamin-A; Hirayama disease; cervical hyperflexion; distal upper extremities; juvenile muscular atrophy; periventricular heterotopias