Presentation
Femoroacetabular impingement: presentation, diagnosis, and management. Semin Musculoskelet Radiol 2008; 12(2):136–145 CrossRef PubMed Google Scholar Kassarjian A, Yoon LS, Belzile E, Connolly SA, Millis MB, Palmer WE. [link.springer.com]
☆☆This paper was presented in part at the 7th International Conference on Calcium Regulating Hormones, Estes Park, Colorado, September 5–9, 1980. [amjmed.com]
The most often prescribed bisphosphonates are presently[update] sodium alendronate (Fosamax) 10 mg a day or 70 mg once a week, risedronate (Actonel) 5 mg a day or 35 mg once a week and or ibandronate (Boniva) once a month. [sites.google.com]
Entire Body System
- Pain
Wikipedia, the free encyclopedia Jump to navigation Jump to search Axial osteomalacia Axial osteomalacia is inherited in an autosomal dominant manner Specialty Orthopedic Axial osteomalacia is a rare osteosclerotic disorder characterized by axial skeleton pain [en.wikipedia.org]
Imaging of the painful hip arthroplasty. AJR Am J Roentgenol 2003; 180:115–120 PubMed Google Scholar Korompilias AV, Karantanas AH, Lykissas MG, Beris AE. Transient Osteoporosis. [link.springer.com]
[…] kidney and liver disease Lab: normal blood calcium, inorganic phosphate and alkaline phosphatase osteomalacia on bone biopsy elevated circulating creatine phosphokinase myopathic changes on muscle biopsy Skel: osteosclerosis vague chronic axial skeletal pain [malacards.org]
Bone softening Bowing legs Compressed vertebrae Easy fracturing Fractures Hypocalcemia - see symptoms of hypocalcemia Leg bone pain Muscle weakness Pain Pelvic bone pain Pelvic flattening Spinal bone pain Weak bones Clinical features Osteomalacia in [sites.google.com]
Abstract Axial osteomalacia--a rare osteosclerotic bone disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the axial but not appendicular skeleton, and osteomalacia on biopsy of a rib or iliac crest [pubmed.ncbi.nlm.nih.gov]
- Weakness
30 HP:0003701 7 polycystic liver disease 30 HP:0006557 Symptoms via clinical synopsis from OMIM®: 57 (Updated 26-Feb-2023) Muscle: myopathy proximal muscle weakness Misc: associated polycystic kidney and liver disease Lab: normal blood calcium, inorganic [malacards.org]
Proximal muscle weakness as a result of osteomalacia associated with celiac disease: a case report. Oz B, Akan O, Kocyigit H, Gürgan HA. Oz B, et al. Osteoporos Int. 2016 Feb;27(2):837-40. doi: 10.1007/s00198-015-3285-9. Epub 2015 Aug 27. [pubmed.ncbi.nlm.nih.gov]
The presence also of unexplained myopathy in the son—characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathologic changes of myopathy on biopsy of quadriceps muscle—together with impaired bone [amjmed.com]
It may show signs as diffuse body pains, muscle weakness, and fragility of the bones. [sites.google.com]
Musculoskeletal
- Muscle Weakness
weakness 30 HP:0003701 7 polycystic liver disease 30 HP:0006557 Symptoms via clinical synopsis from OMIM®: 57 (Updated 26-Feb-2023) Muscle: myopathy proximal muscle weakness Misc: associated polycystic kidney and liver disease Lab: normal blood calcium [malacards.org]
The presence also of unexplained myopathy in the son--characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathogenic changes of myopathy on biopsy of quadriceps muscle--together with impaired [pubmed.ncbi.nlm.nih.gov]
The presence also of unexplained myopathy in the son—characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathologic changes of myopathy on biopsy of quadriceps muscle—together with impaired bone [amjmed.com]
It may show signs as diffuse body pains, muscle weakness, and fragility of the bones. [sites.google.com]
- Myopathy
GeneCards Suite gene sharing: (show all 34) Graphical network of the top 20 diseases related to Axial Osteomalacia: Human phenotypes related to Axial Osteomalacia: 30 (show all 7) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 myopathy [malacards.org]
The presence also of unexplained myopathy in the son--characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathogenic changes of myopathy on biopsy of quadriceps muscle--together with impaired [pubmed.ncbi.nlm.nih.gov]
The presence also of unexplained myopathy in the son—characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathologic changes of myopathy on biopsy of quadriceps muscle—together with impaired bone [amjmed.com]
- Proximal Muscle Weakness
muscle weakness 30 HP:0003701 7 polycystic liver disease 30 HP:0006557 Symptoms via clinical synopsis from OMIM®: 57 (Updated 26-Feb-2023) Muscle: myopathy proximal muscle weakness Misc: associated polycystic kidney and liver disease Lab: normal blood [malacards.org]
The presence also of unexplained myopathy in the son--characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathogenic changes of myopathy on biopsy of quadriceps muscle--together with impaired [pubmed.ncbi.nlm.nih.gov]
The presence also of unexplained myopathy in the son—characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathologic changes of myopathy on biopsy of quadriceps muscle—together with impaired bone [amjmed.com]
- Fracture
Hip fractures Main article: hip fractures Hip fractures are responsible for the most serious consequences of osteoporosis. [sites.google.com]
Postpartum sacral fracture presenting as lumbar radiculopathy: a case report. Arch Phys Med Rehabil 2004;85(8):1358–1361 CrossRef PubMed Google Scholar Major NM, Helms CA. Sacral stress fractures in long-distance runners. [link.springer.com]
Psychiatrical
- Suggestibility
Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]
Investigation of the son suggested that radiographic osteosclerosis can be detected in early adulthood. Limited skeletal survey of his three children revealed no abnormalities. [pubmed.ncbi.nlm.nih.gov]
This suggests it may be less suitable in patients at risk for thrombosis for different reasons. [sites.google.com]
Neurologic
- Radiculopathy
Postpartum sacral fracture presenting as lumbar radiculopathy: a case report. Arch Phys Med Rehabil 2004;85(8):1358–1361 CrossRef PubMed Google Scholar Major NM, Helms CA. Sacral stress fractures in long-distance runners. [link.springer.com]
- Radiculitis
INTERVERTEBRAL SIN MIELOPATÍA NÓDULOS DE SCHMÖRL DEGENERACIÓN DE DISCO INTERVERTEBRAL TRASTORNO DE DISCO INTERVERTEBRAL CON MIEOLPATÍA SÍNDROME POSTLAMINECTOMÍA OTROS TRASTORNOS DE REGIÓN CERVICAL SÍNDROME CERVICOCRANEAL Y CERVICOBRAQUIAL NEURITIS O RADICULITIS [doctorponce.com]
Workup
X-Ray
- Increased Bone Density
The uptake of (heavier) strontium in place of calcium into bone matrix results in a substantial and disproportionate increase in bone mineral density as measured on DXA scanning[47], making further followup of bone density by this method harder to interpret [sites.google.com]
Serum
- Hypophosphatemia
X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology 1989; 171:403 PubMed CAS Google Scholar Ito H, Matsuno T, Minami A. [link.springer.com]
- Hypophosphatemia
X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology 1989; 171:403 PubMed CAS Google Scholar Ito H, Matsuno T, Minami A. [link.springer.com]
HLA Type
- HLA-B27
B...HUNTER RB 13894454 1961 3 Osteomalacia mimicking spondyloarthropathy: a case report. 62 Garip Y...Bodur H 24760247 2014 4 Axial osteomalacia: a new case report. 62 Rolland T...Chapurlat R 20591721 2010 5 Atypical axial osteomalacia: report of a HLA-B27 [malacards.org]
Treatment
Lifestyle changes are also an aspect of treatment. Antiresorptive agents Bisphosphonates Bisphosphonates are the main pharmacological measures for treatment. [sites.google.com]
Prognosis
[…] modifiable 3.3 Diseases and disorders 3.4 Medication 4 Diagnosis 4.1 Clinical decision rule 4.2 Dual energy X-ray absorptiometry 4.3 Screening 5 Treatment 5.1 Antiresorptive agents 5.2 Bone anabolic agents 5.3 Other agents 5.4 Nutrition 5.5 Exercise 6 Prognosis [sites.google.com]
Etiology
The etiology is unknown but has been postulated to be a bone cell defect. We describe the clinical, laboratory, pathologic and family study of a black mother and son with axial osteomalacia associated with polycystic liver and kidney disease. [pubmed.ncbi.nlm.nih.gov]
Epidemiology
Epidemiological, clinical and radiological aspects of osteopoikilosis. J Bone Joint Surg Br 1992; 74-B:504–506 Google Scholar Bloem JL. Transient osteoporosis of the hip: MR imaging. [link.springer.com]
Apart from risk of death and other complications, osteoporotic fractures are associated with a reduced health-related quality of life.[69] Epidemiology Osteoporosis is a major public health threat which afflicts 55% of Americans aged 50 and above. [sites.google.com]
Pathophysiology
Gastrointestinal disease: pathophysiology, diagnosis, management. Vol. II. W.B. Saunders, Philadelphia1978 Google Scholar Hruska KA Kopelman R Rutherford WE Klahr S Slatopolsky E Metabolism of immunoreactive parathyroid hormone in the dog. [amjmed.com]
Prevention
Prevention Methods to prevent osteoporosis include changes of lifestyle. However, there are medications that can be used for prevention as well. [sites.google.com]
[…] medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Phlebology Physical medicine and rehabilitation (PM&R) Preventive [en.wikipedia.org]
Plenum Press, New York1979 () Crossref Google Scholar Fallon MD Whyte MP Teitelbaum SL Stereospecific inhibition of alkaline phosphatase by I-tetramisole prevents in vitro cartilage calcification. [amjmed.com]