Ads
related to: is spinal muscular atrophy fatal due- Patient Website
Visit the Official Site for
Patients and Caregivers
- Locate a Rep
Enter Your ZIP Code to
Locate Your Nearest Representative
- Medical Expert Video
Hear from Experts about the
Changing SMA Landscape.
- SMA Treatment Option
Learn About a Treatment
to Stop SMA Progression
- Reimbursement Resources
Get Help Navigating
Access and Reimbursement
- See Efficacy Data
See the Results of a Completed
Trial of Patients with SMA Type 1
- Patient Website
Search results
Results From The WOW.Com Content Network
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [ 3 ] [ 4 ] [ 5 ] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [ 6 ]
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [1]
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.
Such views still exist in archaic terms for PMA such as "Primary progressive spinal muscular atrophy". Throughout the course of the late 19th century, other conditions were discovered which had previously been thought to be PMA, such as pseudo-hypertrophic paralysis, hereditary muscular atrophy , progressive myopathy , progressive muscular ...
X-linked spinal muscular atrophy type 2 is inherited in an X-linked recessive pattern. The gene associated with this disorder, UBA1, is located on the X chromosome at Xp11.3 and contains 27 exons; moreover, translation begins at the second exon. [6]
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
Ad
related to: is spinal muscular atrophy fatal due