Hypocalcitonemia in Handigodu Disease: a spondylo epi (meta) physeal dysplasia

Handigodu Disease (HD) is a disorder of the osteoarticular system which is highly prevalent in several villages of two districts viz, Shimoga and Chikmaglur of the state of Karnataka, southern India. The scientific name of the disease is Spondylo-epi-(meta) physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome. The same has been listed in the International Classification of Skeletal Dysplasias. The calcium homeostasis study was lack in HD. The serum calcium, phosphorus, parathyroid hormone and calcitonin levels after overnight fast state, and 24 hour urinary excretion of calcium and phosphorus were quantified. The decreased level of calcitonin associated with decreased serum total calcium and urinary calcium in HD were observed. The levels of parathyroid hormone, serum phosphorus and urinary phosphorus remain unchanged among HD affected. The Vitamin D3 levels also noticed unchanged in HD affected. Since calcitonin has antiresorption effect on bone, the observed low calcitonin in HD may imply reosrption of bone leading to deformity and causes hypocalcaemia and hypocalciuria. The hypocalcitonemia without change in iPTH associated with hypocalcaemia may be a mutation in Vit D receptor (VDR) or may be an epiphenomenon

Hypocalcitonemia in Handigodu Disease: a spondylo epi (meta) physeal dysplasia

Handigodu Disease (HD) is a disorder of the osteoarticular system which is highly prevalent in several villages of two districts viz, Shimoga and Chikmaglur of the state of Karnataka, southern India. The scientific name of the disease is Spondylo-epi-(meta) physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome. The same has been listed in the International Classification of Skeletal Dysplasias. The calcium homeostasis study was lack in HD. The serum calcium, phosphorus, parathyroid hormone and calcitonin levels after overnight fast state, and 24 hour urinary excretion of calcium and phosphorus were quantified. The decreased level of calcitonin associated with decreased serum total calcium and urinary calcium in HD were observed. The levels of parathyroid hormone, serum phosphorus and urinary phosphorus remain unchanged among HD affected. The Vitamin D3 levels also noticed unchanged in HD affected. Since calcitonin has antiresorption effect on bone, the observed low calcitonin in HD may imply reosrption of bone leading to deformity and causes hypocalcaemia and hypocalciuria. The hypocalcitonemia without change in iPTH associated with hypocalcaemia may be a mutation in Vit D receptor (VDR) or may be an epiphenomenon

IJCEM1001003

Abstract: Handigodu Disease (HD) is a disorder of the osteoarticular system which is highly prevalent in several villages of two districts viz, Shimoga and Chikmaglur of the state of Karnataka, southern India. The scientific name of the disease is Spondylo-epi-(meta) physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome. The same has been listed in the International Classification of Skeletal Dysplasias. The calcium homeostasis study was lack in HD. The serum calcium, phosphorus, parathyroid hormone and calcitonin levels after overnight fast state, and 24 hour urinary excretion of calcium and phosphorus were quantified. The decreased level of calcitonin associated with decreased serum total calcium and urinary calcium in HD were observed. The levels of parathyroid hormone, serum phosphorus and urinary phosphorus remain unchanged among HD affected. The Vitamin D3 levels also noticed unchanged in HD affected. Since calcitonin has antiresorption effect on bone, the observed low calcitonin in HD may imply reosrption of bone leading to deformity and causes hypocalcaemia and hypocalciuria. The hypocalcitonemia without change in iPTH associated with hypocalcaemia may be a mutation in Vit D receptor (VDR) or may be an epiphenomenon

Metabolic status of magnesium and ceruloplasmin in handigodu joint disease: a variety of spondylo epi (meta) physeal dysplasia

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Exercise Training Reverses Skeletal Muscle Atrophy in an Experimental Model of VCP Disease

BackgroundThe therapeutic effects of exercise resistance and endurance training in the alleviation of muscle hypertrophy/atrophy should be considered in the management of patients with advanced neuromuscular diseases. Patients with progressive neuromuscular diseases often experience muscle weakness, which negatively impact independence and quality of life levels. Mutations in the valosin containing protein (VCP) gene lead to Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) and more recently affect 2% of amyotrophic lateral sclerosis (ALS)-diagnosed cases.Methods/Principle FindingsThe present investigation was undertaken to examine the effects of uphill and downhill exercise training on muscle histopathology and the autophagy cascade in an experimental VCP mouse model carrying the R155H mutation. Progressive uphill exercise in VCPR155H/+ mice revealed significant improvement in muscle strength and performance by grip strength and Rotarod analyses when compared to the sedentary mice. In contrast, mice exercised to run downhill did not show any significant improvement. Histologically, the uphill exercised VCPR155H/+ mice displayed an improvement in muscle atrophy, and decreased expression levels of ubiquitin, P62/SQSTM1, LC3I/II, and TDP-43 autophagy markers, suggesting an alleviation of disease-induced myopathy phenotypes. There was also an improvement in the Paget-like phenotype.ConclusionsCollectively, our data highlights that uphill exercise training in VCPR155H/+ mice did not have any detrimental value to the function of muscle, and may offer effective therapeutic options for patients with VCP-associated diseases

Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease.

BackgroundThe therapeutic effects of exercise resistance and endurance training in the alleviation of muscle hypertrophy/atrophy should be considered in the management of patients with advanced neuromuscular diseases. Patients with progressive neuromuscular diseases often experience muscle weakness, which negatively impact independence and quality of life levels. Mutations in the valosin containing protein (VCP) gene lead to Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) and more recently affect 2% of amyotrophic lateral sclerosis (ALS)-diagnosed cases.Methods/principle findingsThe present investigation was undertaken to examine the effects of uphill and downhill exercise training on muscle histopathology and the autophagy cascade in an experimental VCP mouse model carrying the R155H mutation. Progressive uphill exercise in VCP(R155H/+) mice revealed significant improvement in muscle strength and performance by grip strength and Rotarod analyses when compared to the sedentary mice. In contrast, mice exercised to run downhill did not show any significant improvement. Histologically, the uphill exercised VCP(R155H/+) mice displayed an improvement in muscle atrophy, and decreased expression levels of ubiquitin, P62/SQSTM1, LC3I/II, and TDP-43 autophagy markers, suggesting an alleviation of disease-induced myopathy phenotypes. There was also an improvement in the Paget-like phenotype.ConclusionsCollectively, our data highlights that uphill exercise training in VCP(R155H/+) mice did not have any detrimental value to the function of muscle, and may offer effective therapeutic options for patients with VCP-associated diseases