The teenager who's becoming a human statue: 17-year-old's muscles are turning to BONE due to bizarre incurable condition

Luciana Wulkan, 17, from Bolton, has Fibrodysplasia Ossificans Progressiva (FOP), one of the rarest and most disabling medical conditions, which turns muscle into solid bone.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder marked by painful, recurrent flare-ups and heterotopic ossification (HO) in soft and connective tissues, which can be idiopathic or provoke...
Source: BMC Musculoskeletal Disorders - Category: Orthopaedics Authors: Tags: Case report Source Type: research
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by extraskeletal heterotopic ossification. It is well recognized that FOP can lead to a devastating condition of disa...
Source: BMC Musculoskeletal Disorders - Category: Orthopaedics Authors: Tags: Research article Source Type: research
Abstract Fibrodysplasia ossificans progressiva (FOP) and diffuse intrinsic pontine glioma (DIPG) are diseases that typically manifest in childhood and are associated with severely reduced life expectancy. However, there are currently no effective therapies for these diseases, which remain incurable. Activin receptor-like kinase-2 (ALK2), encoded by the ACVR1 gene, is a bone morphogenetic protein (BMP) type-I receptor subtype that plays an important physiological role in the development of bones, muscles, brain, and other organs. Constitutively active mutants of ALK2 have been identified as causative of FOP and inv...
Source: Chemical and Pharmaceutical Bulletin - Category: Drugs & Pharmacology Authors: Tags: Chem Pharm Bull (Tokyo) Source Type: research
In conclusion, available reports suggest no contraindication to radiotherapy in FOP patients; although the number of cases was small, systematic toxicity reports often were not available, and none of the reports described high-dose, high-energy radiation treatment at locations such as muscle and joint regions.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary disorder causing neck stiffness, ankylosis of temporomandibular joints, and severe restrictive respiratory dysfunction due to progressive heterotopic ossification of the connective tissue. Herein, we report a case of successful airway and anesthesia management using a high-flow nasal cannula (HFNC) in a 51-year-old man with FOP undergoing partial bone resection of the right greater trochanter of the femur. Although general anesthesia with awake fiberoptic nasotracheal intubation has been described as the gold standard, HFNC may yield another potentially viabl...
Source: A&A Case Reports - Category: Anesthesiology Tags: Case Reports Source Type: research
We describe potential mechanisms that can be responsible for the good outcome of BoNT/A therapy observed in our patient.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
We thank Dr Dulski and Dr Slawek for sharing their fascinating case of pseudodystonia due to fibrodysplasia ossificans progressiva (FOP), a connective tissue disorder characterised by heterotopic ossification in muscles, tendons and ligaments. The patient presented with abnormal neck postures suggestive of cervical dystonia and further developed abnormal trunk and limb postures. Considering imaging evidence of inflammation in the sternocleidomastoid muscles, the abnormal postures were characterised within the spectrum of pseudodystonia rather than dystonia.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Segmental progeroid syndromes are commonly represented by genetic conditions which recapitulate aspects of physiological aging by similar, disparate, or unknown mechanisms. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease caused by mutations in the gene for ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor, and results in the formation of extra-skeletal ossification and a constellation of others features, many of which resemble accelerated aging. The median estimated lifespan of individuals with FOP is approximately 56 years of age. ...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Fibrodysplasia ossificans progressiva (FOP) is the most catastrophic form of heterotopic ossification, due to ongoing intracellular signaling through the bone morphogenic protein pathway. The paroxysmal appear...
Source: Pediatric Rheumatology - Category: Rheumatology Authors: Tags: Case Report Source Type: research
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