Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome

• Published in: Muscle & nerve 2016-10, Vol.54 (4), p.794-797
• Main Authors: Hommel, Alyson L., Jewett, Tamison, Mortenson, Megan, Caress, James B.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - physiopathology; Adolescent; cervical hyperflexion; distal upper extremities; Ehlers-Danlos syndrome; Ehlers-Danlos Syndrome - complications; Ehlers-Danlos Syndrome - diagnostic imaging; Ehlers-Danlos Syndrome - physiopathology; Filamin-A; Hirayama disease; Humans; juvenile muscular atrophy; Male; Mutation; periventricular heterotopias; Periventricular Nodular Heterotopia - complications; Periventricular Nodular Heterotopia - diagnostic imaging; Periventricular Nodular Heterotopia - physiopathology; Spinal Muscular Atrophies of Childhood - complications; Spinal Muscular Atrophies of Childhood - diagnostic imaging; Spinal Muscular Atrophies of Childhood - physiopathology; Upper Extremity - diagnostic imaging; Upper Extremity - physiopathology
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.25175

ABSTRACT Introduction: 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. Methods: 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. Results: 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). Conclusions: 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