ADYNAMIA EPISODICA HEREDITARIA
\ɐda͡ɪnˈami͡əɹ ˌɛpɪsˈɒdɪkə hɪɹˌɛdɪtˈe͡əɹi͡ə], \ɐdaɪnˈamiəɹ ˌɛpɪsˈɒdɪkə hɪɹˌɛdɪtˈeəɹiə], \ɐ_d_aɪ_n_ˈa_m_iə_ɹ ˌɛ_p_ɪ_s_ˈɒ_d_ɪ_k_ə h_ɪ_ɹ_ˌɛ_d_ɪ_t_ˈeə_ɹ_iə]\
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An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)
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Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.