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Fulltext Oncogenic osteomalacia, you say? better start looking then - a case report

Vijay, A.P., Tan, A.T.B., Suhaida, A.M., Chan, S.P.

JUMMEC, 2010;13(1):63-68.
MyJurnal

Tumour-induced or oncogenic osteomalacia (OOM) is a rare paraneoplastic syndrome characterized by bone pain and muscle weakness. A biochemical profile consisting of normocalcaemia, hypophosphataemia, phosphaturia, increased serum alkaline phosphatase and inappropriately low serum levels of 1, 25-dihydroxyvitamin-D is diagnostic. OOM is usually caused by an osseous or soft-tissue tumour of mesenchymal origin that secretes phosphaturic substances leading to increased urinary phosphate wasting. These tumours are small and slow growing. The diagnosis continues to be easily missed and when eventually made, localization of the tumour can be difficult. We describe the case of a young man who presented with severe generalized pain associated with muscle weakness. He was extensively investigated and eventually diagnosed to have OOM 3 years after initial presentation. Specialized investigations were necessary to localize the offending tumour.

Matched MeSH terms: Muscle Weakness
Fulltext Defects in nerve conduction velocity and different muscle fibre-type specificity contribute to muscle weakness in Ts1Cje Down syndrome mouse model

Bala U, Leong MP, Lim CL, Shahar HK, Othman F, Lai MI, et al.

PLoS One, 2018;13(5):e0197711.
PMID: 29795634 DOI: 10.1371/journal.pone.0197711

BACKGROUND: Down syndrome (DS) is a genetic disorder caused by presence of extra copy of human chromosome 21. It is characterised by several clinical phenotypes. Motor dysfunction due to hypotonia is commonly seen in individuals with DS and its etiology is yet unknown. Ts1Cje, which has a partial trisomy (Mmu16) homologous to Hsa21, is well reported to exhibit various typical neuropathological features seen in individuals with DS. This study investigated the role of skeletal muscles and peripheral nerve defects in contributing to muscle weakness in Ts1Cje mice.
RESULTS: Assessment of the motor performance showed that, the forelimb grip strength was significantly (P<0.0001) greater in the WT mice compared to Ts1Cje mice regardless of gender. The average survival time of the WT mice during the hanging wire test was significantly (P<0.0001) greater compared to the Ts1Cje mice. Also, the WT mice performed significantly (P<0.05) better than the Ts1Cje mice in the latency to maintain a coordinated motor movement against the rotating rod. Adult Ts1Cje mice exhibited significantly (P<0.001) lower nerve conduction velocity compared with their aged matched WT mice. Further analysis showed a significantly (P<0.001) higher population of type I fibres in WT compared to Ts1Cje mice. Also, there was significantly (P<0.01) higher population of COX deficient fibres in Ts1Cje mice. Expression of Myf5 was significantly (P<0.05) reduced in triceps of Ts1Cje mice while MyoD expression was significantly (P<0.05) increased in quadriceps of Ts1Cje mice.
CONCLUSION: Ts1Cje mice exhibited weaker muscle strength. The lower population of the type I fibres and higher population of COX deficient fibres in Ts1Cje mice may contribute to the muscle weakness seen in this mouse model for DS.

Matched MeSH terms: Muscle Weakness/complications; Muscle Weakness/metabolism*; Muscle Weakness/pathology
Delay and misdiagnosis in adult myasthenia gravis: A case report

Kwa, Siew Kim, Zainab Abdul Majeed, Tan, Kah Nian

International e-Journal of Science, Medicine & Education, 2016;10(3):37-39.
MyJurnal

Myasthenia gravis (MG) is a rare autoimmune disorder
characterised by fluctuating and variable combination
of muscle weakness and fatigue. Most cases are due to
T-cell mediated autoantibodies against post-synaptic
acetylcholine receptors (AChR-Ab), thus preventing
acetylcholine from binding and signalling skeletal
muscle to contract.1
The annual incidence is 7-23 new cases per million.1
It can occur at any age but with two peaks; an earlyonset
(20-40 years) female-predominant and a late-onset
(60-80 years) male-predominant peak. MG is classified
into ocular and generalised (80%). More than half the
patients initially present with ptosis and diplopia but half
will progress to generalised disease with involvement of
bulbar, limb and respiratory weakness. Those presenting
as generalised MG can also develop eye signs later.1
It is important to recognise MG early because it is
highly treatable. Untreated disease leads to permanent
weakness.2 Treatment reduces mortality from lifethreatening
myasthenic crisis.1,3 Misdiagnosis leads to
potentially harmful interventions and inappropriate
management.4,5 Diagnosis in late-onset MG is easily
missed2,3,4,5 because of overlapping symptoms with
other diseases common in the elderly. We report a case
of delay and misdiagnosis in an elderly patient with
co-morbidities. (Copied from article).

Matched MeSH terms: Muscle Weakness
Fulltext Remission of recalcitrant dermatomyositis following a chiropractic adjustment

Chu ECP, Lo FS, Bhaumik A

J Family Med Prim Care, 2019 Nov;8(11):3742-3744.
PMID: 31803683 DOI: 10.4103/jfmpc.jfmpc_839_19

Dermatomyositis (DM) is an idiopathic inflammatory myopathy characterized by progressive muscle weakness and pathognomonic skin eruptions. Systemic corticosteroid with or without an immunosuppressive agent is the current treatment of choice in most cases. Cutaneous disease in DM is often refractory and can become the most challenging component to manage effectively. Here, we report a case of recalcitrant DM in a 66-year-old female who sought chiropractic attention for recent episodes of pain and paresthesia in the neck and exacerbation of joint pain. As expected, the musculoskeletal complaints including neck pain, peripheral arthralgia, and muscle weakness that resolved within 1 month after starting treatment. Unexpectedly, dramatic remission of the characteristic skin rashes occurred concurrently. The underlying therapeutic mechanisms of chiropractic remain elusive. This case highlights the importance of family physicians becoming familiar with diagnosing the condition and using a multidisciplinary team approach to treat recalcitrant DM.

Matched MeSH terms: Muscle Weakness
Fulltext Breast cancer with dermatomyositis as initial presentation

Khoo HY, Tan WJ, Cheong YT

Med J Malaysia, 2018 Feb;73(1):44-45.
PMID: 29531202 MyJurnal

Patients with breast cancer normally present with breast lump or abnormal mammogram. Dermatomyositis is rarely the first presentation. We present a case of a 63-year-old woman who had generalised dermatitis, progressive fatigue and muscle weakness. She was first diagnosed as dermatomyositis and subsequently breast cancer. Her rash and muscle weakness progressed drastically over a month. Tumescent mastectomy and axillary surgery was performed, which led to gradual regression of her dermatomyositis over six months. This case report emphasized in the benefit of early diagnosis and treatment of dermatomyositis and breast cancer. Pros and cons of tumescent mastectomy is discussed as well.

Matched MeSH terms: Muscle Weakness
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects

Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, et al.

Brain, 2023 Oct 03;146(10):4200-4216.
PMID: 37163662 DOI: 10.1093/brain/awad152

Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic variants in filamin-encoding genes have been linked to neurological disorders (FLNA) and muscle diseases characterized by myofibrillar perturbations (FLNC), but human diseases associated with FILIP1 variants have not yet been described. Here, we report on five patients from four unrelated consanguineous families with homozygous FILIP1 variants (two nonsense and two missense). Functional studies indicated altered stability of the FILIP1 protein carrying the p.[Pro1133Leu] variant. Patients exhibit a broad spectrum of neurological symptoms including brain malformations, neurodevelopmental delay, muscle weakness and pathology and dysmorphic features. Electron and immunofluorescence microscopy on the muscle biopsy derived from the patient harbouring the homozygous p.[Pro1133Leu] missense variant revealed core-like zones of myofibrillar disintegration, autophagic vacuoles and accumulation of FLNc. Proteomic studies on the fibroblasts derived from the same patient showed dysregulation of a variety of proteins including FLNc and alpha-B-crystallin, a finding (confirmed by immunofluorescence) which is in line with the manifestation of symptoms associated with the syndromic phenotype of FILIP1opathy. The combined findings of this study show that the loss of functional FILIP1 leads to a recessive disorder characterized by neurological and muscular manifestations as well as dysmorphic features accompanied by perturbed proteostasis and myopathology.

Matched MeSH terms: Muscle Weakness
Compressive radial neuropathy induced by 'hooking' manoeuvre in a tetraplegic person

Julia PE, Mazlina M, Nazirah H

Spinal Cord, 2011 Oct;49(10):1082-3.
PMID: 20877330 DOI: 10.1038/sc.2010.137

Case report.

Matched MeSH terms: Muscle Weakness/etiology; Muscle Weakness/physiopathology
Fulltext Decline in lumbar extensor muscle strength the older adults: correlation with age, gender and spine morphology

Singh DK, Bailey M, Lee R

BMC Musculoskelet Disord, 2013 Jul 22;14:215.
PMID: 23875830 DOI: 10.1186/1471-2474-14-215

BACKGROUND: Muscle morphology, age and gender may be determinants of muscle strength in older adults. However, very few research studies have directly examined such correlation in the ageing spine. The aim of the study was to examine the correlation between lumbar extensor muscle strength, its muscle fibre angles, thoracolumbar curvature, age and gender in the older and younger adults.
METHODS: Muscle fibre angles of lumbar extensor muscles, thoracolumbar curvature and lumbar extensor muscle strength were examined in 26 young (mean age 27.9, SD 5.2) and 26 older (mean age 72.1, SD 5.9) participants. Pearson's correlation was employed to determine the association among lumbar extensor muscle fibre angle, thoracolumbar curvature, age, gender and lumbar extensor muscle strength. Multiple stepwise linear regression analysis was used to identify significant determinants of lumbar extensor muscle strength.
RESULTS: The results demonstrated a significant correlation between lumbar extensor muscle strength, muscle fibre angle, age and gender. In the step wise regression analysis, both gender and age were identified as the most robust determinant for lumbar extensor muscle strength in older adults. However, gender was the only determinant of muscle strength in the young.
CONCLUSION: These results suggest that the decline in the lumbar extensor muscle strength in older adults was more dependent on age when compared to younger adults.

Matched MeSH terms: Muscle Weakness/physiopathology*
Fulltext Gestational age at time of in utero lipopolysaccharide exposure influences the severity of inflammation-induced diaphragm weakness in lambs

Karisnan K, Mahzabin T, Bakker AJ, Song Y, Noble PB, Pillow JJ, et al.

Am J Physiol Regul Integr Comp Physiol, 2018 04 01;314(4):R523-R532.
PMID: 29212808 DOI: 10.1152/ajpregu.00150.2017

The preterm diaphragm is functionally immature compared with its term counterpart. In utero inflammation further exacerbates preterm diaphragm dysfunction. We hypothesized that preterm lambs are more vulnerable to in utero inflammation-induced diaphragm dysfunction compared with term lambs. Pregnant ewes received intra-amniotic (IA) injections of saline or 10 mg lipopolysaccharide (LPS) 2 or 7 days before delivery at 121 days (preterm) or ∼145 days (term) of gestation. Diaphragm contractile function was assessed in vitro. Plasma cytokines, diaphragm myosin heavy chain (MHC) isoforms, and oxidative stress were evaluated. Maximum diaphragm force in preterm control lambs was significantly lower (22%) than in term control lambs ( P < 0.001). Despite similar inflammatory cytokine responses to in utero LPS exposure, diaphragm function in preterm and term lambs was affected differentially. In term lambs, maximum force after a 2-day LPS exposure was significantly lower than in controls (by ~20%, P < 0.05). In preterm lambs, maximum forces after 2-day and 7-day LPS exposures were significantly lower than in controls (by ~30%, P < 0.05). Peak twitch force after LPS exposure was significantly lower in preterm than in controls, but not in term lambs. In term lambs, LPS exposure increased the proportion of MHC-I fibers, increased twitch contraction times, and increased fatigue resistance relative to controls. In preterm diaphragm, the cross-sectional area of embryonic MHC fibers was significantly lower after 7-day versus 2-day LPS exposures. We conclude that preterm lambs are more vulnerable to IA LPS-induced diaphragm dysfunction than term lambs. In utero inflammation exacerbates diaphragm dysfunction and may increase susceptibility to postnatal respiratory failure.

Matched MeSH terms: Muscle Weakness/blood; Muscle Weakness/chemically induced*; Muscle Weakness/physiopathology
Juvenile acid maltase deficiency

Loi, H.D.K., Wong, K.T., Choo, K.E.

Malaysian Journal of Paediatrics and Child Health, 2005;14(1):58-63.
MyJurnal

An eight-year-old Chinese girl presented with a slowly progressive generalized muscle weakness and wasting, complicated by respiratory failure. She had many hospital admissions requiring ventilator support. Eventually tracheostomy tube was inserted. Initial investigations failed to elicit a diagnosis but a muscle biopsy and histological study confirmed the diagnosis of juvenile acid maltase deficiency.

Matched MeSH terms: Muscle Weakness
Fulltext An acute pharyngeal-cervical-brachial (PCB) variant of Guillain-Barre syndrome presenting with isolated bulbar palsy

Hamidon BB

Med J Malaysia, 2006 Jun;61(2):245-7.
PMID: 16898323 MyJurnal

Acute Guillain-Barre syndrome (GBS) is characterized by an acute onset of limb weakness and areflexia. There are a few rare variants that have been described and one of them is the pharyngeal-cervical-brachial (PCB) variant (oropharynx, neck, and proximal upper limb muscles). However, in this patient, the only presentation was bulbar involvement with fast recovery within days. This is likely to be the milder form of PCB that has rarely been described before. A 19-year-old Malay lady presented with progressive dysphagia associated with nasal voice for one week duration. There was no limb weakness. Examination showed generalized areflexia. Pharyngeal and palatal muscles were markedly weak. Cerebrospinal fluid (CSF) examination showed raised protein level. Nerve conduction studies revealed generalized demyelinating motor polyneuropathy consistent with GBS. The patient fully recovered within three days and was discharged well.

Matched MeSH terms: Muscle Weakness/diagnosis*; Muscle Weakness/etiology
Loss of muscle strength, mass (sarcopenia), and quality (specific force) and its relationship with functional limitation and physical disability: the Concord Health and Ageing in Men Project

Hairi NN, Cumming RG, Naganathan V, Handelsman DJ, Le Couteur DG, Creasey H, et al.

J Am Geriatr Soc, 2010 Nov;58(11):2055-62.
PMID: 21054284 DOI: 10.1111/j.1532-5415.2010.03145.x

To determine the association between loss of muscle strength, mass, and quality and functional limitation and physical disability in older men.

Matched MeSH terms: Muscle Weakness/physiopathology*
Intensive exercise and a patient in acute phase of polymyositis

Hejazi SM, Engkasan JP, Qomi MS

J Back Musculoskelet Rehabil, 2012;25(4):231-4.
PMID: 23220804 DOI: 10.3233/BMR-2012-0340

BACKGROUND AND OBJECTIVE: Polymyositis (PM) is an idiopathic inflammatory myopathy manifested by proximal limb muscles weakness, elevated creatinin kinase, electromyography changes, and muscle inflammation in biopsy. We report an instance of intensive rehabilitation therapy in a patient with clinically active polymyositis.
CASE REPORT: A 19-year-old female patient, diagnosed with 'electromyography and biopsy proven' polymyositis for 5 years, suffered from worsening limbs weakness and dysphagia. In her history, she had upper and lower limbs weakness accompanied by dysphagia which was further complicated by right bronchial aspiration 9 months ago. A four-week trial of intensive training and exercise rehabilitation, concurrently accompanied by medications was prescribed for this patient. At the end of therapy she achieved significant improvement in muscle strength, activities of daily living, and ambulation without any disease exacerbation.
CONCLUSION: We concluded that short-term intensive training and exercise may lead to improvements in patients with PM, without causing a progress in the disease. Due to the rarity of PM and difficulty of conducting well-controlled studies to examine the risks and benefits of exercise in these patients, further research is necessary to investigate benefits of exercise training in active phase of disease.

Matched MeSH terms: Muscle Weakness/physiopathology; Muscle Weakness/rehabilitation; Muscle Weakness/therapy
Myopathic dropped head syndrome: a syndrome of mixed aetiology

Goh KJ, Wong KT, Tan CT

J Clin Neurosci, 2000 Jul;7(4):334-6.
PMID: 10938615

We report two patients with myopathic dropped head syndrome, a rare and interesting neuromuscular syndrome characterised by a predominant weakness of the neck extensor muscles. The first patient, a middle aged Chinese man, presented with progressive weakness of neck extension but his clinical course later stabilised despite a lack of response to corticosteroids. Muscle biopsy revealed a necrotising myopathy with no evidence of inflammation. This patient supports the existence of an idiopathic restricted non-inflammatory myopathy, a so called isolated neck extensor myopathy syndrome which is recognised to pursue a less progressive, more benign course. Our second patient had histopathological evidence for polymyositis; there was a favourable response to steroids. Our cases underscore the fact that there may be a spectrum of pathological processes associated with the myopathic dropped head syndrome ranging from non-inflammatory muscle necrosis to a full blown inflammatory myositis.

Matched MeSH terms: Muscle Weakness/etiology*; Muscle Weakness/pathology*; Muscle Weakness/physiopathology

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