{Reference Type}: Video-Audio Media
{Title}: Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.
{Author}: Kumar R;Blackband J;Jain V;Kugelmann L;Subramony SH;Wagle Shukla A;
{Journal}: Tremor Other Hyperkinet Mov (N Y)
{Volume}: 14
{Issue}: 0
{Year}: 2024
暂无{DOI}: 10.5334/tohm.846
{Abstract}: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy.<BR>This video demonstrates irregular, jerky bilateral kinetic, postural, rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient with CMT disease.<BR>Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy.<BR>This video abstract depicts a bilateral hand tremor characteristic of Roussy-Lévy syndrome seen in patients with Charcot-Marie-Tooth disease neuropathy. The significance of the abstract lies in the phenomenology and the physiology of the tremor seen in patients with genetically confirmed duplication of PMP22 gene.