Rapidly Progressive Muscle Weakness

Author(s):  
Tejas R. Mehta ◽  
Kunal Bhatia ◽  
Niraj Arora
2014 ◽  
Vol 155 (1) ◽  
pp. 3-10
Author(s):  
Levente Bodoki ◽  
Melinda Nagy-Vincze ◽  
Zoltán Griger ◽  
Andrea Péter ◽  
Csilla András ◽  
...  

Idiopathic inflammatory myopathies are systemic, immune-mediated diseases characterized by proximal, symmetrical, progressive muscle weakness. The aim of this work is to give an overview of the biological therapy used in the treatment of idiopathic inflammatory myopathies. The authors also focus on novel results in the therapy directed against the B- and T-cells. They emphasize the importance of new trials in these diseases which may lead to the introduction of novel therapeutic options in these disorders. Orv. Hetil., 2014, 155(1), 3–10.


1982 ◽  
Vol 52 (1) ◽  
pp. 57-63 ◽  
Author(s):  
T. J. Gal ◽  
N. S. Arora

Respiratory mechanics were studied in six supine conscious volunteers during progressive muscle weakness produced by infusion of d-tubocurarine. Partial curarization was carried out to the point of abolishing head lift ability and handgrip strength. At all levels of partial paralysis, expiratory muscle strength was significantly more impaired than inspiratory strength. Despite this, subjects maintained relatively normal maximal expiratory flow rates, whereas inspiratory flows decreased significantly. The diminished inspiratory flows are not fully explained by decreased driving pressures during force inspiration, since inspiratory resistance increased significantly with the decreased flow. Inspiratory flow patterns suggest a variable extrathoracic obstruction most likely due to the absence of normal airway abductor activity during inspiration. Maximal respiratory muscle weakness decreased forced vital capacity by 29% and total lung capacity by 15%. The decreased level of lung inflation did not alter lung elastic recoil. Functional residual capacity was unchanged, but inspiratory capacity decreased by 25% and residual volume increased by 38%. These changes are in accord with predictions based on the decreased muscle strength and normal respiratory system recoil.


2021 ◽  
Author(s):  
Franziska Paul ◽  
Calista Ng ◽  
Shahriar Nafissi ◽  
Yalda Nilipoor ◽  
Ali Reza Tavasoli ◽  
...  

Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for a novel Mendelian disorder consisting of progressive muscle weakness, facial dysmorphisms, ophthalmoplegia and intellectual disability. Using exome sequencing, we identified recessively-acting germline alleles p.Arg180Gly and p.Gly183Arg which are both situated in the FYVE domain of RBSN. We find that these variants abrogate binding to its cognate substrate PI3P and thus prevent its translocation to early endosomes. Although the endosomal recycling pathway was unaltered, mutant p.Gly183Arg patient fibroblasts exhibit accumulation of cargo tagged for lysosomal degradation. Our results suggest that these variants are separation-of-function alleles, which cause a delay in endosomal maturation without affecting cargo recycling. We conclude that distinct germline mutations in RBSN cause non-overlapping phenotypes with specific and discrete endolysosomal cellular defects.


2020 ◽  
Vol 77 (11) ◽  
pp. 1216-1220
Author(s):  
Jelena Stevanovic ◽  
Maja Vulovic ◽  
Danijela Pavicevic ◽  
Mihailo Bezmarevic ◽  
Andjelka Stojkovic ◽  
...  

Introduction. Inclusion body myositis (IBM) is a rare form of inflammatory myopathy with a slowly progressive course. It is manifested by early weakness and atrophy of skeletal muscles, especially forearm muscles and the quadriceps. At the very beginning of the disease, clinical symptoms are not pronounced, therefore it is difficult to diagnose. Case report. A forty-eight-year-old female patient visited her doctor due to the weakness of muscles in arms and legs. Five years prior to this, she was treated by a neurologist and a physiatrician on several occasions with different diagnoses for progressive muscle weakness. During the last hospitalization, IBM was diagnosed after the muscle biopsy findings. After the diagnosis, the patient underwent intensive physical therapy in order to preserve the ability to independently perform everyday activities and stability of walk. Conclusion. IBM is a rare clinical entity which often takes several years to be diagnosed. Progressive muscle weakness in elderly should point to possible IBM diagnosis, which is only confirmed by muscle biopsy. Physical therapy has a significant role in the treatment as it leads to improvement of functional abilities of the patients in their daily activities, thus reducing the disability degree.


2012 ◽  
Vol 23 (11) ◽  
pp. 2057-2065 ◽  
Author(s):  
Yang Wang ◽  
Girish C. Melkani ◽  
Jennifer A. Suggs ◽  
Anju Melkani ◽  
William A. Kronert ◽  
...  

Hereditary myosin myopathies are characterized by variable clinical features. Inclusion body myopathy 3 (IBM-3) is an autosomal dominant disease associated with a missense mutation (E706K) in the myosin heavy chain IIa gene. Adult patients experience progressive muscle weakness. Biopsies reveal dystrophic changes, rimmed vacuoles with cytoplasmic inclusions, and focal disorganization of myofilaments. We constructed a transgene encoding E706K myosin and expressed it in Drosophila (E701K) indirect flight and jump muscles to establish a novel homozygous organism with homogeneous populations of fast IBM-3 myosin and muscle fibers. Flight and jump abilities were severely reduced in homozygotes. ATPase and actin sliding velocity of the mutant myosin were depressed >80% compared with wild-type myosin. Light scattering experiments and electron microscopy revealed that mutant myosin heads bear a dramatic propensity to collapse and aggregate. Thus E706K (E701K) myosin appears far more labile than wild-type myosin. Furthermore, mutant fly fibers exhibit ultrastructural hallmarks seen in patients, including cytoplasmic inclusions containing aberrant proteinaceous structures and disorganized muscle filaments. Our Drosophila model reveals the unambiguous consequences of the IBM-3 lesion on fast muscle myosin and fibers. The abnormalities observed in myosin function and muscle ultrastructure likely contribute to muscle weakness observed in our flies and patients.


2011 ◽  
Vol 78 (6) ◽  
pp. 385-391 ◽  
Author(s):  
S. ALBASHIR ◽  
L. OLANSKY ◽  
M. SASIDHAR

2021 ◽  
Vol 14 (1) ◽  
pp. 121-124
Author(s):  
Razvan Chirila ◽  
◽  
Elena Raluca Cristea ◽  
Monica Roxana Purcarea ◽  
Laura Carina Tribus ◽  
...  

This case report describes a rare case of progressive muscle weakness in a patient treated for eosinophilic fasciitis (EF) for many years before being diagnosed with a second autoimmune disease: dermatomyositis. Our case is a report of a 65-year-old male diagnosed with eosinophilic fasciitis 7 years before being evaluated in our service at Mayo Clinic in Jacksonville, Florida, due to progressive muscle weakness despite the chronic treatment with methotrexate. Contrast-enhanced magnetic resonance imaging of the lower extremity showed enhancement throughout the thigh musculature, which led us to pursue biopsies of the fascia and muscle in order to confirm the diagnosis of EF associated with myopathy. This case illustrates the need to consider the possibility of myopathy in patients diagnosed with EF whenever muscle weakness is more prominent than expected.


2021 ◽  
Vol 12 (1) ◽  
pp. 124-125
Author(s):  
Ravi Shankar Khatri ◽  
Mridul Ranajan ◽  
Shalini .

Duchenne muscular dystrophy (DMD) is an inherited disorder with severe progressive muscle weakness. In Ayurveda, Adibala Pravritta Vyadhi are also known as inherited diseases that caused by Matruja beeja dushti (Shonita) and Pitruja beeja dushti (Shukra). Duchenne muscular dystrophy (DMD) has been classified under Adibala Pravritta Vyadhi as per Ayurveda. The main objective of this article is to describe the various aspect of etiopathogenesis of Duchenne muscular dystrophy (DMD) as per Ayurvedic literature. This article will be helpful to making the Nidana (Diagnosis) as per Ayurveda and also help in the Chikitsa (Treatment) of Duchenne muscular dystrophy.


2020 ◽  
Vol 20 (2) ◽  
Author(s):  
Jufitriani Ismy

Abstrak. Periodik paralisis hipokalemia menyebabkan kelemahan otot yang progresif terutama pada kelompok otot proksimal tungkai bawah, serangan akut dapat terjadi secara berulang. Serangan pertama biasanya terjadi antara usia 5 tahun dan 35 tahun, tetapi frekuensi serangan paling tinggi antara usia 15 dan 35 tahun.  Ditemukan kasus Periodik paralisis hipokalemia yang berulang pada anak laki laki usia 15 tahun. Semua hasil analisis gejala klinis dan pemeriksaan penunjang sangat mendukung untuk diagnosis periodik paralisis hipokalemia.Kata kunci: periodik paralisis hipokalemia, kelemahan otot, usia 15 tahunAbstract. Periodic paralysis of hypokalemia causes progressive muscle weakness especially in the proximal lower leg muscle groups, acute attacks may occur repeatedly. The first attacks usually occur between the ages of 5 and 35, but the frequency of attacks is highest between the ages of 15 and 35. A case of recurrent hypokalemia periodic paralysis was found in a boy aged 15 years. All the results of clinical symptom analysis and investigations are very supportive for the diagnosis of periodic hypokalemia paralysis. Key words: periodic hypokalemia paralysis, muscle weakness, age 15 years


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