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encyclopedia of Rare Disease Annotation for Precision Medicine



  Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan

Alkaptonuria is a rare metabolic disease characterised by accumulative deposition of homogentisic acid in the connective tissue of the body. This results in early degeneration of tendons, cartilages, heart valves, and other tissues. In Jan 5, 2017, Omar Alrawashdeh and others published an article in << Neurology Interional >> which title is “Neurological Assessment and Nerve Conduction Study Findings in 22 Patients with Alkaptonuria from Jordan”, reported the neurological assessment and nerve conduction study Findings in 22 patients with Alkaptonuria from Jordan. They carried out a neurological assessment including detailed medical history, neurological examination, and a nerve conduction study of the nerves of the dominant hand. Finally, they found there was a higher prevalence of low back pain, hearing problems and tinnitus, numbness and neuropathic pain in alkaptonuria patients.

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