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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 ]
5q spinal muscular atrophy; Autosomal recessive proximal spinal muscular atrophy; Werdnig–Hoffmann disease / Kugelberg–Welander disease; 253300 253550 253400 271150: SMN1: 5q13.2: Autosomal recessive: Affects primarily proximal muscles in people of all ages, progressive, relatively common XLSMA: X-linked spinal muscular atrophy type 1 (SMAX1)
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
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 hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group of motor neuron diseases that result from genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of the spinal cord and subsequent muscle atrophy.
X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting .
They appear usually after age of 40. The disease is slowly progressive with adult onset and results in weakness and mild muscle atrophy. [1] [3] The disease does not affect life expectancy. [1] However, it is difficult to differentiate the disease from a more fatal amyotrophic lateral sclerosis in diagnosis. [1]
Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. The mutation involves satellite DNA , which is tandemly repeated sequences of DNA that do not code for a protein.
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