Premium
Juvenile muscular atrophy of the distal upper extremities associated with x‐linked periventricular heterotopia with features of Ehlers‐Danlos syndrome
Author(s) -
Hommel Alyson L.,
Jewett Tamison,
Mortenson Megan,
Caress James B.
Publication year - 2016
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25175
Subject(s) - ehlers–danlos syndrome , medicine , anatomy , heterotopia (medicine) , atrophy , pathology
: 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