Spinal muscular atrophy with lower extremity predominance
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
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.
Descripción
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.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
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
Enfermedad de la neurona motora
Motor neurone disease (MND) 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
Planificación para quedar embarazada
The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of embarazo 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
Escoliosis y cifosis
Escoliosis is a back condition that causes the (back) spine a 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
Espondilitis anquilosante
Espondilitis anquilosante es a chronic inflammatory arthritis. Eso 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) es a persistent (chronic) inflammatory arthritic disease. The word spondylitis means inflammation of the spine. It mainly affects.
Patient information leaflet
Debilidad muscular
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
Síndrome de Guillain-Barré
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.
Lecturas adicionales y referencias
- 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.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.