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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 ]
Autosomal recessive proximal spinal muscular atrophy, responsible for 90-95% of cases and usually called simply spinal muscular atrophy (SMA) – a disorder associated with a genetic mutation on the SMN1 gene on chromosome 5q (locus 5q13), diagnosed predominantly in young children and in its most severe form being the most common genetic cause ...
The weakness of XL-SMA is often prenatal in onset, manifests as polyhydramnios and poor movement in utero that results in congenital contractures. [4] Moreover, the weakness of XL-SMA is progressive. Below is a list of known symptoms of XL-SMA: [5] Face : Myopathic Facies; Facial weakness; Mouth : Tongue fasciculations; Respiratory :
Motor neuron diseases affect both children and adults. [5] While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness . [ 6 ] Most of these diseases seem to occur randomly without known causes, but some forms are inherited. [ 2 ]
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.
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.
symptoms surgery (though deemed by some as inappropriate) S 1: first heart sound: S 2: second heart sound: S 3: third heart sound S 4: fourth heart sound S&O: salpingo-oophorectomy Sb: Scholar batch SAAG: serum–ascites albumin gradient SAB: staphylococcal bacteremia spontaneous abortion (that is, miscarriage) SAD: seasonal affective disorder ...
Pyramidal signs can be a result from different types of damage to the brain or spinal cord, such as strokes, infections, tumors, hemorrhagic events, multiple sclerosis, or trauma. [4] Parkinsonian-Pyramidal syndrome (PPS) is a combination of both pyramidal and parkinsonian signs that manifest in various neurodegenerative diseases. [5]