Myopathic Tremor
Autosomal RecessiveIon Channels / Membrane
W
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Overview
From WUSTL NeuromuscularClinical features: General Onset Age: Infancy Weakness Tremor may precede onset When present: Often distal Physiology High frequency Amplitude: High or Fine Postural & Kinetic: Not at rest No intermuscular synchronization Stable during weight loading ADL: No impairment Disorders: Myopathies involving contractile (sarcomere) elements MYOTREM: MYBPC1 Mutations producing increased binding to myosin Deregulation of cross-bridge cycling during sarcomere contraction Distal myopathy: MYH7 Missense mutations in C-terminal tail Myopathy + Ophthalmoplegia: MYH2 Mutation: E706K CFTD: MYL2 Mutations: Rece
Related Conditions
Shared genesExternal Resources
Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.