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SMA 4 (Adult onset) Adulthood This denotes the adult-onset form, sometimes also classified as a late-onset SMA type 3. It occurs in approx. 5% of patients and usually manifests in the third or fourth decade of life. The symptoms consist of gradual weakening of leg muscles, which frequently makes it necessary for the patient to use walking aids.
It was first identified in 1966 at the Mayo Clinic, by A.G. Engel, [2] and that same year W.K. Engel and J.S. Resnick noted another case that they elaborated in 1975. [3] [4] The diagnosis of the disease rests on subacutely evolving weakness after age 40, normal to low CK level, a myopathic EMG with fibrillations, and often a monoclonal gammopathy.
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.
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]
SMA syndrome is also known as Wilkie's syndrome, cast syndrome, mesenteric root syndrome, chronic duodenal ileus and intermittent arterio-mesenteric occlusion. [3] It is distinct from nutcracker syndrome , which is the entrapment of the left renal vein between the AA and the SMA, although it is possible to be diagnosed with both conditions.
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 onset any time from birth to adulthood. [5] The earlier the disease onset, the greater the variety of possible signs and symptoms. [citation needed] Thus, various diagnostic classifications based on the age of onset/severity of the disease have been proposed, although DM1 manifestations likely lie on a continuum. [7]
GLUT1 deficiency syndrome: E74.810 Attention-deficit hyperactivity disorder (with hyperactivity) 314.01 F90 Tic disorders (involuntary, compulsive, repetitive, stereotyped) F95 Tourette's syndrome: F95.2 Stereotypic movement disorder: F98.5 Huntington's disease (Huntington's chorea) 333.4 G10 Dystonia: G24 Drug induced dystonia: G24.0
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