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1.
Cureus ; 16(6): e61661, 2024 Jun.
Article de Anglais | MEDLINE | ID: mdl-38966484

RÉSUMÉ

Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disorder, representing humans' most debilitating form of extraskeletal ossification. It is characterized by progressive postnatal heterotopic ossification of connective tissue and malformations of the big toes. In FOP, ectopic ossification usually begins in the upper paraspinal muscles and then spreads from axial to appendicular regions, cranial to caudal directions, and proximal to distal sites. The mean life expectancy for these patients is typically 40-50 years. Most patients need partial or complete assistance with walking by age 30, and common causes of death include thoracic insufficiency syndrome and pneumonia. We present the case of a patient with an advanced stage of FOP, highlighting its complex and progressive nature. The patient exhibits severe impairment of jaw mobility, swallowing difficulties, speech impediments, and hearing impairment. Additionally, severe kyphoscoliosis, heterotopic ossification of intercostal and paravertebral muscles, and ankylosis of the spine and all major joints of the upper and lower extremities, except the metacarpophalangeal and proximal interphalangeal joints, are evident. We discuss disease presentation, current management options, and rehabilitation challenges. To our knowledge, this is the first reported case of this rare disease from our country.

2.
Cureus ; 16(4): e58221, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-38745792

RÉSUMÉ

There is increasing evidence of neurological involvement in patients with coronavirus disease. Reports of neurological manifestations include altered mental status, Guillain-Barré syndrome (GBS) and its forms, encephalopathy, psychosis, neurocognitive (dementia) syndrome, ischemic strokes, intracerebral hemorrhage, and acute transverse myelitis. We present three patients with rare neurological manifestations of the COVID-19 disease, with a special focus on rehabilitation in a health resort setting. Outcomes were evaluated based on neurological examination and the modified Barthel index. We highlight the importance of an interdisciplinary approach to reduce disability and improve functionality and quality of life.

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