sandhoff disease/ضعف

يتم حفظ الارتباط في الحافظة

اختر نوع الفرز

10 النتائج

[Adult Sandhoff disease presented as a motor neuron disease phenotype with slow progression].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

A 35-year old Japanese male with adult Sandhoff disease was described, who was presented as a motor neuron disease phenotype with slow progression. At the age of 15, he first noticed weakness in his thigh. At the age of 28, his upper and lower motor neuron disturbances were disclosed. He was

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

Infants with Sandhoff disease typically appear normal until 3-6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with

[HEXB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

OBJECTIVE To investigate the phenotype and genotype of a Chinese boy and his family affected by infantile Sandhoff disease. METHODS The proband, a boy, was the first child born to a non-consanguineous couple. He showed startle reaction after birth and progressive psychomotor regression from the age

[A case of juvenile Sandhoff disease].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

A Japanese male with juvenile Sandhoff disease is described. The patient was a product of full-term normal pregnancy from non-consanguineous parents. Since age 10, he developed progressive dysarthria and proximal muscle atrophy and weakness. Mental deterioration and cerebellar ataxia are also noted

Sandhoff disease mimicking adult-onset bulbospinal neuronopathy.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

A 32 year old male is described with an onset of upper limb postural tremor in adolescence followed by muscle cramps. Progressive proximal amyotrophy and weakness in the limbs developed late in the third decade. Examination disclosed, in addition, bilateral facial weakness and mild dysarthria.

Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

Infantile Sandhoff disease is an autosomal recessive inherited disease primarily characterized by cherry red spots in the retina, muscle weakness, seizure, truncal hypotonia, hyperacusis, developmental delay and regression. The pathogenic genetic defects of the HEXB gene, which encodes the β subunit

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (alpha subunit) or Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, beta beta). Both mutant mice accumulate GM2 ganglioside

Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

Two sisters presented with progressive muscle cramps, as well as wasting and weakness of the legs with onset after age 20. They also showed intention tremor of the upper extremities and dysarthria starting during the first decade. The older patient also had fasciculations; the younger,

[A patient with GM2 gangliosidosis presenting with motor neuron disease symptom in his forties].

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

Here, we report a Japanese man with adult Sandhoff disease who presented with a motor neuron disease phenotype with slow progression. At the age of 42, he noticed weakness in his legs. At the age of 46, he was admitted to our hospital. Neurological examination revealed muscle weakness and atrophy of

Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up.

يمكن للمستخدمين المسجلين فقط ترجمة المقالات

الدخول التسجيل فى الموقع

An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement. 25 years from the onset, his muscle weakness slightly worsened but he was fully independent in activities of daily living. GM2-gangliosidosis can

انضم إلى صفحتنا على الفيسبوك

Herbal & Natural Medicine

قاعدة بيانات الأعشاب الطبية الأكثر اكتمالا التي يدعمها العلم

يعمل في 55 لغة
العلاجات العشبية مدعومة بالعلم
التعرف على الأعشاب بالصورة
خريطة GPS تفاعلية - ضع علامة على الأعشاب في الموقع (قريبًا)
اقرأ المنشورات العلمية المتعلقة ببحثك
البحث عن الأعشاب الطبية من آثارها
نظّم اهتماماتك وابقَ على اطلاع دائم بأبحاث الأخبار والتجارب السريرية وبراءات الاختراع

اكتب أحد الأعراض أو المرض واقرأ عن الأعشاب التي قد تساعد ، واكتب عشبًا واطلع على الأمراض والأعراض التي تستخدم ضدها.
* تستند جميع المعلومات إلى البحوث العلمية المنشورة