Infantile-onset ascending hereditary spastic paralysis
آخر تحديث 27 Apr 2021
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterised by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result from degeneration (atrophy) of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types involve additional areas of the nervous system, affecting the upper limbs and other areas of the body. Infantile-onset ascending hereditary spastic paralysis starts as a pure hereditary spastic paraplegia, with spasticity and weakness in the legs only, but as the disorder progresses, the muscles in the arms, neck, and head become involved and features of the disorder are more characteristic of the complicated type.
الوصف
Infantile-onset ascending hereditary spastic paralysis is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterised by progressive muscle stiffness (spasticity) and eventual paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result from degeneration (atrophy) of motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types involve additional areas of the nervous system, affecting the upper limbs and other areas of the body. Infantile-onset ascending hereditary spastic paralysis starts as a pure hereditary spastic paraplegia, with spasticity and weakness in the legs only, but as the disorder progresses, the muscles in the arms, neck, and head become involved and features of the disorder are more characteristic of the complicated type.
Affected infants are typically normal at birth, then within the first 2 years of life, the initial symptoms of infantile-onset ascending hereditary spastic paralysis appear. Early symptoms include exaggerated reflexes (hyperreflexia) and recurrent muscle spasms in the legs. As the condition progresses, affected children develop abnormal tightness and stiffness in the leg muscles and weakness in the legs and arms. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head and neck. Muscles in the head and neck usually weaken during adolescence; symptoms include slow eye movements and difficulty with speech and swallowing. Affected individuals may lose the ability to speak (anarthria). The leg and arm muscle weakness can become so severe as to lead to paralysis; as a result affected individuals require wheelchair assistance by late childhood or early adolescence. Intelligence is not affected in this condition.
A condition called juvenile primary lateral sclerosis shares many of the features of infantile-onset ascending hereditary spastic paralysis. Both conditions have the same genetic cause and significantly impair movement beginning in childhood; however, the pattern of nerve degeneration is different. Because of their similarities, these conditions are sometimes considered the same disorder.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
IAHSP
Infantile onset ascending spastic paralysis
Infantile-onset ascending hereditary spastic paraplegia
Related patient information and medicines
Patient information leaflet
تشنج نصف الوجه
Hemifacial spasm is a condition that affects half of your face. It usually starts with a twitching around one eye. It may gradually involve your mouth also. Idiopathic means 'of unknown cause'. Is hemifacial spasm inherited. Because the causes of hemifacial spasm are not inherited, it is unlikely that you will pass the condition on to your.
Patient information leaflet
نقص صوديوم الدم
What is it hyponatraemia. These include infants who are taking formula which has not been made up correctly, and elderly people who may be less likely to express thirst and who may be taking medicines which cause hyponatraemia as a side-effect, or suffer from medical conditions associated with hyponatraemia (eg, kidney or liver disease and heart.
Patient information leaflet
الشلل الدماغي
This may be before the baby is born, during the birth or soon after birth. What is cerebral palsy. Cerebral palsy is a name for a group of life-long conditions that have problems with muscle function and control. It is caused by brain injury or abnormal development of the brain that occurs while a child's brain is still developing. أنواع of.
Patient information leaflet
التواء الرقبة
Torticollis means 'twisted neck'. It هو often of sudden-onset (acute torticollis). It usually lasts 24-48 hours and can occur for no known reason or due to irritation of a muscle or l... Fixed torticollis can also arise due to incorrect development or fusion of the vertebra (neck bones) in babies. Cervical dystonia Cervical dystonia (also known as.
Patient information leaflet
ألم الطحال
This leaflet gives a brief overview of the spleen and its functions. See the separate leaflet called Hereditary Spherocytosis as an example of a condition with abnormal red blood cells. It also stores up to one third of the body's... These extra stored platelets can be released from the spleen if severe bleeding occurs. In unborn babies (fetuses).
Patient information leaflet
آفات الفص الصدغي
The temporal lobe of the brain is involved in understanding and remembering what we see (vision), understanding speech and language, and understanding emotions. The temporal lobe ca... The symptoms caused by temporal lobe lesions are usually much less obvious than when other parts of the brain are affected. For example, many السكتات الدماغية will cause.
قراءة إضافية ومراجع
- Infantile-onset ascending hereditary spastic paralysis; MedlinePlus, National Library of Medicine.
- Eker HK, Unlu SE, Al-Salmi F, Crosby AH. A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. Eur J Med Genet. 2014 May-Jun;57(6):275-8. doi: 10.1016/j.ejmg.2014.03.006. Epub 2014 Apr 3.
- Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Neurology. 2003 Feb 25;60(4):674-82. doi: 10.1212/01.wnl.0000048207.28790.25.
- Orrell RW. ALS2-Related Disorder. 2005 Oct 21 [updated 2021 May 13]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1243/
- Racis L, Tessa A, Pugliatti M, Storti E, Agnetti V, Santorelli FM. Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review. Eur J Paediatr Neurol. 2014 Mar;18(2):235-9. doi: 10.1016/j.ejpn.2013.09.009. Epub 2013 Oct 9.
- Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
27 Apr 2021 | أحدث إصدار
1 Apr 2016 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.