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Manifestations of 3-Methylcrotonyl-CoA carboxylase deficiency range from asymptomatic [5] to neonatal onset with extreme neurological symptoms [6] and even fatal cases. [ 7 ] 3-Methylcrotonyl-CoA carboxylase deficiency is diagnosed by increased 3-hydroxyisovaleric acid and 3-methylcrotonylglycine in the urine. 3-hydroxyisovalerylcarnitine is ...
Neuropathic arthropathy (also known as Charcot neuroarthropathy or diabetic arthropathy) refers to a progressive fragmentation of bones and joints in the presence of neuropathy. [1] It can occur in any joint where denervation is present, although it most frequently presents in the foot and ankle. [2]
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.
Charcot-Marie-Tooth disease is a genetic neurological condition that causes damage to the peripheral nerves that connect the spine and brain to the arms and legs, according to the Mayo Clinic ...
Charcot disease can refer to several diseases named for Jean-Martin Charcot, such as: Amyotrophic lateral sclerosis, a degenerative muscle disease also known as Charcot disease or Lou Gehrig's disease; Charcot–Marie–Tooth disease, an inherited demyelinating disease of the peripheral nervous system
Diabetic foot conditions can be acute or chronic complications of diabetes. [1] Presence of several characteristic diabetic foot pathologies such as infection, diabetic foot ulcer and neuropathic osteoarthropathy is called diabetic foot syndrome. The resulting bone deformity is known as Charcot foot.
List of medical symptoms. Medical symptoms refer to the manifestations or indications of a disease or condition, perceived and complained about by the patient. [1] [2] Patients observe these symptoms and seek medical advice from healthcare professionals.
Dejerine–Sottas disease, also known as, Dejerine–Sottas syndrome, [3] hereditary motor and sensory polyneuropathy type III, and Charcot–Marie–Tooth disease type 3, is a hereditary neurological disorder characterized by damage to the peripheral nerves, demyelination, and resulting progressive muscle wasting and somatosensory loss.