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Progressive supranuclear palsy (PSP) is a late-onset neurodegenerative disease involving the gradual deterioration and death of specific volumes of the brain. [1] [2] The condition leads to symptoms including loss of balance, slowing of movement, difficulty moving the eyes, and cognitive impairment. [1]
PMP22 point mutations, such as the frameshift mutation Gly94fsX222 (c.281_282insG), can cause clinical overlap between PNPP and Charcot–Marie–Tooth disease type 1A. Missense, nonsense, and splice site mutations have been described. [10] PMP22 encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin. [11]
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), [a] the neuromuscular junctions, or skeletal muscles, all of which are components of the motor unit. [4] Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or ...
The demyelinating diseases of the peripheral nervous system include: [citation needed] Guillain–Barré syndrome and its chronic counterpart, chronic inflammatory demyelinating polyneuropathy; Anti-MAG peripheral neuropathy; Charcot–Marie–Tooth disease and its counterpart Hereditary neuropathy with liability to pressure palsy
The characteristics are typical of demyelinating neuropathy with antimyelin-associated glycoprotein (MAG) antibodies; however, anti-MAG neuropathy is not included in the CIDP criteria according to the EFNS/PNS criteria, primarily due to the presence of a particular antibody and a different response to treatment.
Pilonidal disease is a type of skin infection which typically occurs as a cyst between the cheeks of the buttocks and often at the upper end. [ 1 ] [ 3 ] Symptoms may include pain, swelling, and redness. [ 1 ]
Chemical therapies, such as peripheral nervous system (PNS) modulation, are being investigated for the treatment of infectious and inflammatory disorders, such as rheumatoid arthritis and issues associated with diabetes. [11] Targeting tumor innervation is being explored as a potential new treatment approach.
Management of neuropsychiatric lupus is similar to the management of neuropsychiatric disease in patients without lupus. Treatment depends on the underlying causes of a patient’s disease, and may include immunosuppressants, anticoagulants, and symptomatic therapy. [9]