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.

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.