X-linked spinal muscular atrophy

Common Name(s)

X-linked spinal muscular atrophy, Arthrogryposis Multiplex Congenita Distal X-Linked, XLSMA, AMCX1

X-linked infantile spinal muscular atrophy (XL-SMA) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by {6:Ramser et al., 2008}). Historically, {4:Hall et al. (1982)} distinguished at least 3 clinical varieties of X-linked arthrogryposis. (1) One family had a severe lethal form with severe contractures, scoliosis, chest deformities, hypotonia, micrognathia, and death from respiratory insufficiency by age 3 months. Apparently progressive loss of anterior horn cells was the cause. (2) Two families had moderately severe AMC associated with ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence. Nonprogressive intrauterine myopathy appeared to be the 'cause'. (3) In 2 families and a sporadic case, the disorder took the form of a resolving AMC, with mild to moderate contractures improving dramatically with time, normal intelligence, and no other anomalies; tight connective tissues on misplaced tendons was postulated.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked spinal muscular atrophy" for support, advocacy or research.

Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

Last Updated: 19 May 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked spinal muscular atrophy" for support, advocacy or research.

Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

http://www.thisbeandnoah.org/

Last Updated: 19 May 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked spinal muscular atrophy" returned 6 free, full-text research articles on human participants. First 3 results:

Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease).
 

Author(s): Francisco A Dias, Renato P Munhoz, Salmo Raskin, Lineu César Werneck, Hélio A G Teive

Journal: Clinics (Sao Paulo). 2011 ;66(6):955-7.

 

To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease.

Last Updated: 2 Aug 2011

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Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.
 

Author(s): Juliane Ramser, Mary Ellen Ahearn, Claus Lenski, Kemal O Yariz, Heide Hellebrand, Michael von Rhein, Robin D Clark, Rita K Schmutzler, Peter Lichtner, Eric P Hoffman, Alfons Meindl, Lisa Baumbach-Reardon

Journal: Am. J. Hum. Genet.. 2008 Jan;82(1):188-93.

 

X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death. To identify the XL-SMA disease ...

Last Updated: 8 Jan 2008

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Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy.
 

Author(s): Patrick S Thomas, Gregory S Fraley, Vincent Damian, Vincent Damien, Lillie B Woodke, Francisco Zapata, Bryce L Sopher, Stephen R Plymate, Albert R La Spada

Journal: Hum. Mol. Genet.. 2006 Jul;15(14):2225-38.

 

X-linked spinal and bulbar muscular atrophy (SBMA; Kennedy's disease) is a polyglutamine (polyQ) disease in which the affected males suffer progressive motor neuron degeneration accompanied by signs of androgen insensitivity, such as gynecomastia and reduced fertility. SBMA is caused ...

Last Updated: 28 Jun 2006

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked spinal muscular atrophy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
 

Status: Recruiting

Condition Summary: Spinal Muscular Atrophy; Charcot-Marie-Tooth Disease; Muscular Dystrophy; Spinal Muscular Atrophy With Respiratory Distress 1; Amyotrophic Lateral Sclerosis; Motor Neuron Disease; Neuromuscular Disease; Peroneal Muscular Atrophy; Fragile X Syndrome

 

Last Updated: 24 Aug 2015

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Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
 

Status: Not yet recruiting

Condition Summary: Osteopenia; Spinal Muscular Atrophy; Cerebral Palsy; Muscular Dystrophy; Spina Bifida; Rett Syndrome

 

Last Updated: 28 Apr 2015

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Flu Vaccine Study in Neuromuscular Patients 2011
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy; Spinal Muscular Atrophy; Congenital Muscular Dystrophy

 

Last Updated: 22 Aug 2011

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