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Symptoms: None, feeling tired, shortness of breath, easy bleeding, frequent infections [3] Usual onset ~ 70 years old [4] Risk factors: Previous chemotherapy, radiation therapy, certain chemicals such as tobacco smoke, pesticides, and benzene, exposure to mercury or lead [3] Diagnostic method: Blood test, bone marrow biopsy [3] Treatment
Vibration exposure is also associated with hand-arm vibration syndrome, which has symptoms of lack of blood circulation to the fingers, nerve compression, tingling, and/or numbness. [19] Recent epidemiological studies identify gender as a significant risk factor in occurrence of MSDs among workers in gender-related occupations, e.g. hairdressers .
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.
Many affected people will eventually become unable to walk [2] and Duchenne muscular dystrophy in particular is associated with shortened life expectancy. Muscular dystrophy was first described in the 1830s by Charles Bell. [2] The word "dystrophy" comes from the Greek dys, meaning "no, un-" and troph-meaning "nourish". [2]
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.
Red flags are findings that suggest an alternate diagnosis, although they do not rule out MS. Red flags include a patient younger than 15 or older than 60, less than 24 hours of symptoms, involvement of multiple cranial nerves, involvement of organs outside of the nervous system, and atypical lab and exam findings.
Sometimes the diagnosis must be retrospective, relying on gradual worsening of neurological signs/symptoms, due to the lack of understanding of the pathogenicity driving disease progression. [1] However, the only definite diagnosis of MS is post-mortem autopsy, where lesions typical of MS can be detected through histopathological techniques.
There is currently no approved treatment for MLD in symptomatic late infantile patients or for juvenile and adult-onset with advanced symptoms. There is a treatment for pre-symptomatic patients and certain others with the condition. Symptomatic patients typically receive clinical treatment focused on pain and symptom management.
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