Studies in Medical Sciences
مجله مطالعات علوم پزشکی
Studies in Medical Sciences
Medical Sciences
http://umj.umsu.ac.ir
37
journal37
2717-008X
2717-008X
10.61186/umj
fa
jalali
1392
6
1
gregorian
2013
9
1
24
6
online
1
fulltext
fa
امیوتروفیک لترال اسکلروزیس یا بیماری کندی: گزارش یک مورد بیماری
AMYOTROPHIC LATERAL SCLEROSIS OR KENNEDY'S DISEASE: A CASE REPORT OF A PATIENT WITH THREE YEARS OF MISDIAGNOSIS
آناتومی
آناتومی
پژوهشي(توصیفی- تحلیلی)
Research
<p class="Chekide" style="TEXT-JUSTIFY: kashida TEXT-ALIGN: justify TEXT-KASHIDA: 0% MARGIN: 0in 0in 0pt unicode-bidi: embed DIRECTION: rtl" dir="rtl"><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA">بیماری کندی </span><span dir="ltr"></span><span dir="ltr"><span dir="ltr"></span><font face="Times New Roman" size="2">(Kennedy disease)</font></span><span dir="rtl"></span><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA"><span dir="rtl"></span> یا اتروفی عضلانی نخاعی و بولبار </span><span dir="ltr"></span><span dir="ltr"><span dir="ltr"></span><font face="Times New Roman" size="2">(BSMA)</font></span><span dir="rtl"></span><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA"><span dir="rtl"></span> یک اختلال وابسته به جنس مغلوب با شروع در بزرگسالی است که در اثر تکرار تری نوکلئوتید سیتوزین آدنین - گوانین </span><span dir="ltr"></span><span dir="ltr"><span dir="ltr"></span><font face="Times New Roman" size="2">(CAG)</font></span><span dir="rtl"></span><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA"><span dir="rtl"></span> ایجاد میشود. به علت هم پوشانی علایم این بیماری با سایر اختلالات نوروماسکولر نظیر امیوتروفیک لترال اسکلروزیس </span><span dir="ltr"></span><span dir="ltr"><span dir="ltr"></span><font face="Times New Roman" size="2">(ALS)</font></span><span dir="rtl"></span><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA"><span dir="rtl"></span> یا اتروفی عضلانی نخاعی </span><span dir="ltr"></span><span dir="ltr"><span dir="ltr"></span><font face="Times New Roman" size="2">(SMA)</font></span><span dir="rtl"></span><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA"><span dir="rtl"></span>، بیماری کندی گاهی اوقات اشتباه تشخیص داده شده یا مورد توجه قرار نمیگیرد. در این گزارش آقای 56 سالهای با تشخیص بیماری کندی معرفی میشود که به مدت سه سال با تشخیص </span><font size="2"><font face="Times New Roman"><span dir="ltr">ALS</span><span dir="rtl"></span></font></font><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA"><span dir="rtl"></span> تحت درمان بوده است. <p></p></span></p><p class="Chekide" style="TEXT-JUSTIFY: kashida TEXT-ALIGN: justify TEXT-KASHIDA: 0% MARGIN: 0in 0in 0pt unicode-bidi: embed DIRECTION: rtl" dir="rtl"><span lang="FA" style="FONT-FAMILY: Nazanin FONT-SIZE: 9.5pt mso-ansi-font-size: 8.5pt mso-bidi-language: FA"></span></p>
<p> <strong> </strong></p><p> <strong><i> </i></strong>Kennedy's Disease (KD) Bulbar and spinal muscular atrophy (BSMA) is an adult onset, X-linked, recessive disorder caused by expansion of a polymorphic CAG tandem repeat. Because Kennedy’s clinical symptoms overlap with some other neuromuscular disorders such as amyotrophic lateral sclerosis (ALS) or spinal muscular atrophies, KD sometimes is misdiagnosed or left unnoticed. Here we describe a case of Kennedy’s disease confirmed by genetic testing who had been diagnosed and treated with ALS for three years. We describe a 56-year-old man presented with progressive onset of lower limbs muscular atrophy, weakness, and fasciculations since five years ago. He also complained of instability and fatigue when walking. Since three years ago, he had difficulty in swallowing and talking. He denied any sensory symptoms and sphincter disturbances. On examination at disease beginning he had normal mental status, bilateral facial palsy, tongue atrophy and fasciculation. The patient had lower limb muscle atrophy with mild weakness. The deep tendon reflexes all were depressed and the plantar responses were abolished. There were no sensory and cerebellar signs. Neuroimaging didn't show any significant pathology. Electrodiagnostic examination (EDX) revealed neurogenic pattern with low compound muscle action potentials (CMAP) and acute and chronic denervation pattern in tested muscles, so the patient diagnosed with ALS and treatment started with Riluzole, six months ago we visited him again with new onset sensory symptoms of face and limb parenthesis. Sensory examination revealed mild impairment of pinprick and thermal senses at limbs although senses of vibration and joint position were normal. He had also perioral and facial fasciculations. Since patient's signs and symptoms progression was gradual with developing of sensory findings we questioned the initial diagnosis and reevaluate it later on, EDX study showed decreased lower extremities CMAP with absent F-wave and H-reflects. All sensory parameters were near absent. Genetic studies revealed an increased CAG repeat number (50 normal up to 34), confirming the diagnosis of Kennedy disease. KD is the most common disease which is confused with ALS and recognition of KD is important because its prognosis, natural history, family testing, and management is different from ALS so it is necessary to rule out KD in suspected male cases of ALS.</p><p> SOURCE: URMIA MED J 2013: 24(6): 466 ISSN: 1027-3727 </p>
امیوتروفیک لترال اسکلروزیس (ALS)، بیماری کندی (Kennedy disease)
Amytrophic lateral sclerosis (ALS), Kennedy’s Disease (KD)
463
466
http://umj.umsu.ac.ir/browse.php?a_code=A-10-582-377&slc_lang=fa&sid=1
Aliakbar
Taheraghdam
علی اکبر
طاهر اقدم
370031947532846007607
370031947532846007607
No
Tabriz University of Medical Sciences
بیمارستان امام رضا، دانشگاه علوم پزشکی تبریز
Ali
Pashapour
، علی
پاشاپور
370031947532846007608
370031947532846007608
No
Tabriz University of Medical Sciences
بیمارستان امام رضا، دانشگاه علوم پزشکی تبریز
Somaiyeh
Mostafaei
سمیه
مصطفایی
somaiyehmostafaie@yahoo.com
370031947532846007609
370031947532846007609
Yes
Neuroscience Research Center (NSRC), Tabriz University of Medical Sciences,
مرکز تحقیقات علوم اعصاب، بیمارستان امام رضا، دانشگاه علوم پزشکی تبریز
Elyar
Sadeghi Hokmabadi
الیار
صادقی حکم آبادی
370031947532846007610
370031947532846007610
No
Neuroscience Research Center (NSRC), Tabriz University of Medical Sciences,
مرکز تحقیقات علوم اعصاب، بیمارستان امام رضا، دانشگاه علوم پزشکی تبریز