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Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.
Main symptoms of multiple sclerosis Symptoms and findings in multiple sclerosis. The signs and symptoms of multiple sclerosis (MS) encompass a wide range of neurological and physical manifestations, including vision problems, muscle weakness, coordination difficulties, and cognitive impairment, varying significantly in severity and progression among individuals.
Multiple sclerosis is typically diagnosed based on the presenting signs and symptoms, in combination with supporting medical imaging and laboratory testing. [5] It can be difficult to confirm, especially early on, since the signs and symptoms may be similar to those of other medical problems. [1] [100]
Limiting heavy lifting, training, and reporting early signs of injury are examples that can prevent MSD. [27] Employers can provide support for employees in order to prevent MSD in the workplace by involving the employees in planning, assessing, and developing standards of procedures that will support proper ergonomics and prevent injury. [27]
Pyramidal signs can be a result from different types of damage to the brain or spinal cord, such as strokes, infections, tumors, hemorrhagic events, multiple sclerosis, or trauma. [4] Parkinsonian-Pyramidal syndrome (PPS) is a combination of both pyramidal and parkinsonian signs that manifest in various neurodegenerative diseases. [5]
Multiple sclerosis can cause a variety of symptoms including changes in sensation (hypoesthesia), muscle weakness, abnormal muscle spasms, impaired movement, difficulties with coordination and balance, problems in speech (known as dysarthria) or swallowing , visual problems (nystagmus, optic neuritis, or diplopia), fatigue and acute or chronic ...
It can be difficult to confirm, especially early on, since the signs and symptoms may be similar to those of other medical problems. [ 5 ] [ 6 ] The McDonald criteria , which focus on clinical, laboratory, and radiologic evidence of lesions at different times and in different areas, is the most commonly used method of diagnosis. [ 7 ]
This damage disrupts the ability of parts of the nervous system to transmit signals, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. [ 2 ] [ 3 ] [ 4 ]