The use of ultrasound in neuromuscular diagnoses.

PURPOSE OF REVIEW: The use of ultrasonography for diagnosis of neuromuscular disorders is a relatively new but rapidly expanding field. This review covers key ultrasound findings in primary disease of muscle and nerve. RECENT FINDINGS: Ultrasonography is used routinely for evaluation of entrapment neuropathies, hereditary and inflammatory neuropathies, polyneuropathies, myopathies, and motor neuron disease. When used in association with other electrodiagnostic testing, ultrasound has allowed physicians to increase the yield of clinical evaluation in diagnostic laboratories. SUMMARY: While ultrasonography has not yet replaced the need for electrodiagnostic studies, it has become a useful accompaniment.

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

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.