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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 ...
Signs and symptoms depend on the specific disease, but motor neuron diseases typically manifest as a group of movement-related symptoms. [6] They come on slowly, and worsen over the course of more than three months. Various patterns of muscle weakness are seen, and muscle cramps and spasms may occur.
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 :
Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle.
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 ...
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.
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.
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related to: signs and symptoms of sma in children under 5 years later wiki list