scholarly journals Severe Proximal Myopathy with Remarkable Recovery after Vitamin D Treatment

2009 ◽  
Vol 36 (03) ◽  
pp. 336-339 ◽  
Author(s):  
Yousef A. Al-Said ◽  
Hiyam S. Al-Rached ◽  
Hussien A. Al-Qahtani ◽  
Mohammed M.S. Jan
Keyword(s):  
Vitamin D ◽  
Saudi Arabia ◽  
Vitamin D Deficiency ◽  
Muscle Weakness ◽  
Bound States ◽  
Calcium Supplementation ◽  
Lower Limbs ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Remarkable Recovery

Background:Osteomalacia is an uncommon cause of muscle weakness. Our objectives were to describe features of myopathy associated with Vitamin D deficiency and examine the contributing factors leading to osteomalacic myopathy in our region.Methods:Patients identified retrospectively for the six year period ending in December 2006 with the diagnosis of osteomalacia and/or Vitamin D deficiency associated proximal muscle weakness were included. They were followed in three major centers in western Saudi Arabia. Clinical, biochemical, radiological, and electrophysiological findings were collected before and after Vitamin D treatment by chart review.Results:Forty seven female patients aged 13-46 years (mean 23.5, SD 4.5) were included. All were veiled and covered heavily when outside the house for social and cultural reasons. Only eight (17%) had adequate varied diet with daily milk ingestion. All patients presented with progressive proximal muscle weakness lasting 6-24 months (mean 14) prior to our evaluation. The weakness was severe in six (13%) patients leading to wheel chair bound states. Associated musculoskeletal pain involving the back, hips, or lower limbs was common (66%). Osteomalcia was the referral diagnosis in only 11 patients and the remaining 36 (77%) patients were misdiagnosed. All patients had metabolic and radiological profiles suggestive of osteomalacia. Remarkable recovery was documented in all patients following oral cholecalciferol and calcium supplementation.Conclusions:Vitamin D deficiency is an important treatable cause of osteomalacic myopathy in Saudi Arabia. The diagnosis is frequently delayed or missed. Screening for Vitamin D deficiency in patients with acquired myopathy is needed to identify this treatable disorder.

Vitamin D Deficiency and Muscle Strength in Male Alcoholics

1989 ◽  
Vol 77 (2) ◽  
pp. 171-176 ◽  
Author(s):  
T. Hickish ◽  
K. W. Colston ◽  
J. M. Bland ◽  
J. D. Maxwell
Keyword(s):  
Vitamin D ◽  
Muscle Strength ◽  
Vitamin D Deficiency ◽  
Muscle Weakness ◽  
Chronic Alcoholism ◽  
Muscle Fibres ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Control Subjects ◽  
And Control

1. Chronic alcoholism may be complicated by proximal muscle weakness associated with a selective atrophy of type II skeletal muscle fibres. The histopathological findings are non-specific as identical changes are seen in proximal muscle weakness associated with various metabolic myopathies, including osteomalacia. 2. The maximum voluntary contraction (MVC) of the dominant quadriceps and plasma 25-hydroxycholecalciferol [25-(OH)D] were measured in male alcoholics and control subjects to determine whether vitamin D deficiency contributed to proximal muscle weakness. 3. In both groups MVC declined with age and was related to body build. The distribution of plasma 25-(OH)D was skewed in alcoholics, with the mean significantly lower than in control subjects. Seventeen per cent of patients (but none of the control subjects) had pronounced biochemical deficiency [plasma 25-(OH)D < 10 nmol/l]. 4. Alcoholics were significantly weaker than control subjects, even after correcting for the effects of age, height and weight. The severity of associated liver disease (cirrhosis vs no cirrhosis) did not influence muscle strength. Variation in plasma 25-(OH)D and albumin made an insignificant contribution to the difference in MVC observed between patients and control subjects. 5. We conclude that proximal muscle strength is reduced in chronic alcoholism but that this is not due to associated vitamin D [25-(OH)D] deficiency or alcoholic cirrhosis.

scholarly journals Pompe disease: case report in siblings

2021 ◽  
Author(s):  
Eduarda Pereira de Barros ◽  
Fábio Lima Baggio ◽  
Bruna Giaretta Ventorin ◽  
Amanda Raminelli Morceli ◽  
Diogo Fraxino de Almeida
Keyword(s):  
Muscle Strength ◽  
Disease Progression ◽  
Muscle Weakness ◽  
Pompe Disease ◽  
Lower Limbs ◽  
Apnea Hypopnea Index ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Mild Phenotype ◽  
Disease Case

Introduction: Pompe disease (PD) affects lysosomal digestion due to absence or low action of the enzyme acid α-glucosidase (GAA), with accumulation of glycogen, causing overflow of enzymes and autophagy, which affects striated muscle. PD is divided into infantile, juvenile, and adult clinical forms, with severity determined by amount of residual GAA activity. Case: P1) 45-year-old man admitted with acute respiratory failure (RF), starts mechanical ventilation. History of weakness, dyspnea, dysphagia. He had decreased proximal muscle strength at lower limbs (LL). Sequencing of GAA gene: autosomal recessive deficiency of two variants. Apnea-hypopnea-index (AHI):10.5. GAA enzyme replacement therapy (ERT) was requested. Judicially denied by disease progression. P2) 40-year-old man presented with loss of muscle strength at LL for 15 years, associated with snoring, daytime somnolence. Brother with similar complaints. He had proximal muscle weakness at LL. Positive genetic panel for PD. AHI:23.5. Judicially released ERT treatment and reported improvement. Discussion: Adult form of PD manifests itself with mild phenotype, with presence of residual GAA activity, which causes different clinical expressions. Main manifestations are symmetric proximal muscle weakness in LL and Gowers’ sign. Frequent death cause in late form is RF, which occurs early, unlike other neuromuscular diseases. In Brazil, PD is underdiagnosed, with approximately 2500 cases. Treatment is performed with Myozyme®, an ERT, not available in SUS, which makes treatment difficult. Conclusion: PD is a serious condition, with high underdiagnosis because of its similarity to other myopathies, which allows disease progression. Furthermore, the variability of GAA mutations allows for distinct phenotypes

scholarly journals ANCA-associated vasculitis and severe proximal muscle weakness

2021 ◽  
pp. 1-3
Author(s):  
Jordan S. Dutcher ◽  
Albert Bui ◽  
Tochukwu A. Ibe ◽  
Goyal Umadat ◽  
Eugene P. Harper ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Anca Associated Vasculitis

Juvenile dermatomyositis: a case of delayed recognition with unusual complication of nephrocalcinosis

2021 ◽  
Vol 14 (4) ◽  
pp. e241152
Author(s):  
Geminiganesan Sangeetha ◽  
Divya Dhanabal ◽  
Saktipriya Mouttou Prebagarane ◽  
Mahesh Janarthanan
Keyword(s):  
Muscle Weakness ◽  
Juvenile Dermatomyositis ◽  
Inflammatory Myopathy ◽  
Unusual Complication ◽  
Ultrasound Screening ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Calcinosis Cutis ◽  
First Case ◽  
Medullary Nephrocalcinosis

Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in children and is characterised by the presence of proximal muscle weakness, heliotrope dermatitis, Gottron’s papules and occasionally auto antibodies. The disease primarily affects skin and muscles, but can also affect other organs. Renal manifestations though common in autoimmune conditions like lupus are rare in JDM. We describe a child whose presenting complaint was extensive calcinosis cutis. Subtle features of proximal muscle weakness were detected on examination. MRI of thighs and a muscle biopsy confirmed myositis. Nephrocalcinosis was found during routine ultrasound screening. We report the first case of a child presenting with rare association of dermatomyositis, calcinosis cutis and bilateral medullary nephrocalcinosis.

scholarly journals Juvenile dermatomyositis - A case report with review on oral manifestations and oral health considerations

2018 ◽  
Vol 44 (1) ◽  
pp. 52-61
Author(s):  
Pritesh Ruparelia ◽  
Oshin Verma ◽  
Vrutti Shah ◽  
Krishna Shah
Keyword(s):  
Oral Health ◽  
Muscle Weakness ◽  
Juvenile Dermatomyositis ◽  
Oral Manifestations ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Inflammatory Myositis ◽  
Life Threatening

Juvenile Dermatomyositis is the most common inflammatory myositis in children, distinguished by proximal muscle weakness, a characteristic rash and Gottron’s papules. The oral lesions most commonly manifest as diffuse stomatitis and pharyngitis with halitosis. We report a case of an 8 year old male with proximal muscle weakness of all four limbs, rash, Gottron’s papules and oral manifestations. Oral health professionals must be aware of the extraoral and intraoral findings of this rare, but potentially life threatening autoimmune disease of childhood, for early diagnosis, treatment, prevention of long-term complications and to improve the prognosis and hence, the quality of life for the patient.

scholarly journals Dermatomyositis-specifikus autoantitesttel rendelkező és autoantitest-negatív betegeink klinikai jellemzőinek és laboratóriumi paramétereinek összehasonlítása

2015 ◽  
Vol 156 (36) ◽  
pp. 1451-1459 ◽  
Author(s):  
Levente Bodoki ◽  
Dóra Budai ◽  
Melinda Nagy-Vincze ◽  
Zoltán Griger ◽  
Zoe Betteridge ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Matrix Protein ◽  
Skin Lesions ◽  
Clinical Findings ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Nuclear Matrix Protein ◽  
Specific Antibodies ◽  
Antibody Positivity ◽  
Specific Autoantibody

Introduction: Myositis is an autoimmune disease characterised by proximal muscle weakness. Aim: The aim of the authors was to determine the frequency of dermatomyositis-specific autoantibodies (anti-Mi-2, anti-transcriptional intermediary factor 1 gamma, anti-nuclear matrix protein 2, anti-small ubiquitin-like modifier activating enzyme, anti-melanoma differentiation-associated gene) in a Hungarian myositis population and to compare the clinical features with the characteristics of patients without myositis-specific antibodies. Method: Antibodies were detected using immunoblot and immunoprecipitation. Results: Of the 330 patients with nyositis, 48 patients showed dermatomyositis-specific antibody positivity. The frequency of antibodies in these patients was lower than those published in literature Retrospective analysis of clinical findings and medical history revealed that patients with dermatomyositis-specific autoantibody had more severe muscle weakness and severe skin lesions at the beginning of the disease. Conclusions: Antibodies seem to be useful markers for distinct clinical subsets, for predicting the prognosis of myositis and the effectiveness of the therapy. Orv. Hetil., 2015, 156(36), 1451–1459.

scholarly journals SEVERE PROXIMAL MUSCLE WEAKNESS IN A PATIENT WITH ANKYLOSING SPONDYLITIS WITH MAJOR CLINICAL RESPONSE TO SECUKINUMAB

2021 ◽  
Author(s):  
Lucas Brandão Araujo da Silva ◽  
Matheus Santos Rodrigues Silva ◽  
Aline Capellato Dias Baccaro ◽  
Rafael Giovani Misse ◽  
Clarice Tanaka ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Clinical Response ◽  
Muscle Weakness ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle
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