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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.
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 ...
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.
Complex regional pain syndrome (CRPS type 1 and type 2), sometimes referred to by the hyponyms reflex sympathetic dystrophy (RSD) or reflex neurovascular dystrophy (RND), is a rare and severe form of neuroinflammatory and dysautonomic disorder causing chronic pain, neurovascular, and neuropathic symptoms.
This ultimately leads to muscle atrophy and myasthenia. Following an acute poliovirus infection, symptoms such as fatigue, asthenia, and pain are believed to be linked to muscle denervation. [9] Much like post-polio syndrome, ALS also has similar symptoms of motor neurodegeneration leading to general weakness and, in some cases, paralysis. The ...
Symptoms of neuromuscular disease may include numbness, paresthesia, muscle atrophy, a pseudoathletic appearance, exercise intolerance, myalgia (muscle pain), fasciculations (muscle twitches), myotonia (delayed muscle relaxation), hypotonia (lack of resistance to passive movement), fixed muscle weakness (a static symptom), or premature muscle ...
The diagnosis may be supported by nerve conduction studies and medical imaging. [1] TOS is difficult to diagnose and there are many potential differential diagnoses as well as other diseases that are often co-occurrent with TOS. [5] Initial treatment for the neurogenic type is with exercises to strengthen the chest muscles and improve posture. [1]