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Werdnig-Hoffmann disease should not be confused with Hoffmann syndrome, which is a type of adult-onset hypothyroid myopathy.) [18] The eponymous term Kugelberg–Welander disease named after Erik Klas Hendrik Kugelberg (1913–1983) and Lisa Welander (1909–2001), who first documented the late-onset form and distinguished it from muscular ...
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)
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.
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]
SMA Spinal muscular atrophy: SMD Sensory modulation disorder SMEI Severe myoclonic epilepsy of infancy: SMS Smith–Magenis syndrome: SOD Septo-optic dysplasia: SPD Sensory processing disorder: SPS Stiff person syndrome: SSPE Subacute sclerosing panencephalitis: STEMI ST-elevation myocardial infarction: STD Sexually transmitted disease: STI
The age of onset is the age at which an individual acquires, develops, or first experiences a condition or symptoms of a disease or disorder. For instance, the general age of onset for the spinal disease scoliosis is "10-15 years old," [ 1 ] meaning that most people develop scoliosis when they are of age between ten and fifteen years.
SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the ASAH1 gene and is inherited in an autosomal recessive manner. [3] SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis. [4] As with many genetic disorders, there is no known cure for SMA-PME.
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