HNPP typically leads to episodic, p

HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon.

結果 (繁體中文) 1:

HNPP通常會導致發作，無痛，反复發作，局灶性運動和感覺外週神經病變，對受影響的神經前面加輕微壓縮。電評估需要，以確定是否神經病是脫髓鞘。神經的超聲檢查是有用的。診斷是由分別找到PMP22重複，缺失或點突變證實。鑑別診斷包括其他遺傳性神經病和獲得的多神經病。遺傳方式為常染色體顯性和從頭突變發生。患者的後代有50％的機會從他們受影響的繼承父突變。產前檢測是可能的; 產前的測試要求是不常見的。治療目前對症，可以通過康復醫師，物理治療師包括管理，

結果 (繁體中文) 2:

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結果 (繁體中文) 3:

HNPP通常導致發作性、無痛性、復發性、局灶性運動和感覺性周圍神經病變，然後對受影響的神經進行輕微壓迫。多發性神經病是否脫髓鞘需要電生理學評估。神經的超聲檢查是有用的。診斷是通過分別發現PMP22重複、缺失或點突變來確定的。鑒別診斷包括其他遺傳性神經病和獲得性多發性神經病。遺傳管道為常染色體顯性和從頭突變。患者的後代有50%的機會從受影響的父母那裡繼承突變。產前檢查是可能的；要求產前檢查並不常見。治療現時是有症狀的，可能包括康復醫生、理療師、職業治療師和骨科醫生的管理。