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Some CDG subtypes, like SSR4-CDG 1y, have been classified as connective tissue disorders. [4] Ocular abnormalities of PMM2-CDG include: myopia, infantile esotropia, delayed visual maturation, peripheral neuropathy (PN), strabismus, nystagmus, optic disc pallor, and reduced rod function on electroretinography. [5]
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. [1]
Inflammatory demyelinating diseases (IDDs), sometimes called Idiopathic (IIDDs) due to the unknown etiology of some of them, are a heterogenous group of demyelinating diseases - conditions that cause damage to myelin, the protective sheath of nerve fibers - that occur against the background of an acute or chronic inflammatory process.
SRD5A3-CDG is an ultra-rare disorder with a frequency of less than 1 in 10 million. [12] As of 2018, there were at least 38 reported cases of SRD5A3-CDG from 26 different families. While the exact number of patients worldwide is unknown, most recorded cases so far have been reported from Afghanistan, the Czech Republic, Iran, Pakistan, Poland ...
The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy (because it involves the nerve roots). [2] CIDP is closely related to Guillain–Barré syndrome and it is considered the chronic counterpart of that acute disease. [ 3 ]
Each disorder is listed with the primary organ or body part that it affects and the associated autoantibodies that are typically found in people diagnosed with the condition. Each disorder is also categorized by its acceptance as an autoimmune condition into four levels: confirmed, probable, possible, and uncertain.
Hyperekplexia (/ ˌ h aɪ. p ər. ɛ k ˈ p l ɛ k. s i. ə /; "exaggerated surprise") is a neurological disorder characterized by a pronounced startle response to tactile or acoustic stimuli and an ensuing period of hypertonia. The hypertonia may be predominantly truncal, attenuated during sleep, or less prominent after one year of age.