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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 includes two separate types: type I and type II. Type I CRPS, formerly known as reflex sympathetic dystrophy (RSD) or "Sudeck's atrophy", refers to CRPS without any observed nerve damage. Type II, formerly known as causalgia, refers to CRPS with observed nerve damage. This form, similarly to other forms of AMPS, is known to be able to ...
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination ().
[12] [15] Patients display muscle weakness and cerebellar and ocular malformations, with a life expectancy of less than 1 year. [ 9 ] [ 15 ] An additional dystroglycanopathy phenotype is Fukuyama congenital muscular dystrophy (FCMD) caused by a mutation in the Fukutin (FKTN) gene, which is the second most common type of muscular dystrophy in ...
Nearly all children with early onset or congenital muscular dystrophy type 1A (MDC1A) are unable to walk independently. Nevertheless, children with MDC1A are usually able to sit. Contrastingly, patients with late onset LAMA2-MD are usually able to walk independently. Of note, in both types of LAMA2-MD developmental motor milestones are delayed.
Raynaud syndrome, also known as Raynaud's phenomenon, is a medical condition in which the spasm of small arteries causes episodes of reduced blood flow to end arterioles. [1]
The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients are unable to walk. [15]
Signs and symptoms of familial dysautonomia usually commence during infancy and worsen with age, and may include gastrointestinal dysmotility (including erratic gastric emptying, gastroesophageal reflux, abnormal esophageal peristalsis, oropharyngeal incoordination), [3] dysphagia (as poor suckling in infancy) and frequent choking/gagging, recurrent vomiting, poor weight gain [6] /growth, [7 ...