Spinal muscular atrophy with lower extremity predominance
अंतिम अद्यतन 18 Aug 2020
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterised by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles.
विवरण
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterised by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles.
Joint deformities (contractures) in the hips, knees, feet, and ankles can occur in SMA-LED, and in severe cases are present from birth and can impair walking. Some individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands.
In most people with SMA-LED, the muscle problems are apparent in infancy or early childhood; however, about one-quarter of affected individuals do not develop muscle weakness until adulthood. The muscle weakness and related health problems typically do not worsen over time.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Kugelberg-Welander syndrome, autosomal dominant
Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
SMA-LED
Spinal muscular atrophy, childhood, proximal, autosomal dominant
Spinal muscular atrophy, juvenile, proximal, autosomal dominant
Spinal muscular atrophy, lower extremity, autosomal dominant
Spinal muscular atrophy, lower extremity, dominant
Related patient information and medicines
Patient information leaflet
मोटर न्यूरॉन रोग
मोटर न्यूरॉन रोग (एमएनडी) is a neurological condition causes a progressive weakness and wasting of many of the muscles in the body. There are various types of motor neurone disease. This leaflet is mainly about amyotrophic lateral sclerosis (ALS), which is the most common type of motor neurone disease. Although there is no cure for motor neurone.
Patient information leaflet
गर्भवती होने की योजना बना रही हैं
The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of गर्भावस्था complications. Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made. Hereditary conditions People with a history of a condition that runs in.
Patient information leaflet
स्कोलियोसिस और काइफोसिस
स्कोलियोसिस is a back condition that causes the (back) spine को curve to the side - either left or right. Most cases develop in children between the ages of 9 and 14 years during the growth spurt of puberty. Scoliosis is usually ... Kyphosis can occur at any age, although it is rare at birth. Adolescent kyphosis, is known as Scheuermann's.
Patient information leaflet
एंकिलोसिंग स्पॉन्डिलाइटिस
एंकिलोसिंग स्पॉन्डिलाइटिस है a chronic inflammatory arthritis. यह mainly affects the lower back but can affect the rest of the spine. There is no cure but treatments help with managing symptoms. Ankylosing spondylitis (AS) है a persistent (chronic) inflammatory arthritic disease. The word spondylitis means inflammation of the spine. It mainly affects.
Patient information leaflet
मांसपेशियों की कमजोरी
Muscle weakness is a common complaint but the word weakness can mean different things to different people - including tiredness, reduced power and failure to work at all. Neurological conditions : Muscle weakness can be caused by cerebrovascular disease such as a... Spine-related conditions : When nerves are damaged as they emerge from the spine.
Patient information leaflet
गुइलेन-बैरे सिंड्रोम
It requires immediate hospital admission as ... With appropriate treatment and monitoring, most people make a full recovery. What is Guillain-Barré syndrome. Guillain-Barré syndrome (GBS) is a disease that affects nerves throughout the body and limbs. It is usually triggered by an infection. It is named after Dr Guillain and Dr Barré who were two.
अधिक पठन और संदर्भ
- Spinal muscular atrophy with lower extremity predominance; MedlinePlus, National Library of Medicine.
- Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28.
- Martinez-Carrera LA, Wirth B. Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein. Front Neurosci. 2015 Nov 5;9:401. doi: 10.3389/fnins.2015.00401. eCollection 2015.
- Neveling K, Martinez-Carrera LA, Holker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schoneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.
- Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14.
- Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martinez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.
- Storbeck M, Horsberg Eriksen B, Unger A, Holker I, Aukrust I, Martinez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21.
- Strickland AV, Schabhuttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Zuchner S, Schule R, Shy ME, Auer-Grumbach M. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.