Results 11 to 20 of about 1,301,741 (184)

Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Enzyme replacement therapy (ERT; alglucosidase alfa) has improved the prospects for patients with classic infantile Pompe disease considerably.
J. J. A. van den Dorpel, E. Poelman, L. Harlaar, H. A. van Kooten, L. J. van der Giessen, P. A. van Doorn, A. T. van der Ploeg, J. M. P. van den Hout, N. A. M. E. van der Beek   +8 more
doaj   +3 more sources

Weakness and Progressive Muscle Tightness Diagnosed as Kennedy Disease [PDF]

International Clinical Neuroscience Journal, 2015
Kennedy disease is a rare X-linked neurodegenerative disorder that affects patients in 30-50 years of age. It is caused by CAG-repeat in androgen receptor gen. There is no known effective treatment for Kennedy disease. We report a 60-year-old man who had
Behdad Behnam, Mehran Arab Ahmadi, Farzad Ashrafi   +2 more
doaj   +2 more sources

Proximal muscle weakness. [PDF]

Pract Neurol, 2019
A 38-year-old woman gave a 1-year history of difficulties climbing stairs and walking long distances, needing a wheelchair at times. More recently, she had also experienced weakness of her arms with difficulties doing her hair or lifting light weights. She reported shortness of breath on mild exertion and had lost 12 pounds in weight because of muscle ...
Gonzalez-Perez P, Torre M, Helgager J, Amato AA.   +3 more
europepmc   +4 more sources

Prominent Asymmetric Muscle Weakness and Atrophy in Seronegative Immune-Mediated Necrotizing Myopathy

Diagnostics, 2021
Immune-mediated necrotizing myopathy, a new subgroup of inflammatory myopathies, usually begins with subacute onset of symmetrical proximal muscle weakness.
Sunha Park, Dae-Hyun Jang, Jae-Min Kim, Nara Yoon   +3 more
doaj   +2 more sources

An unusual treatable cause for proximal muscle weakness. [PDF]

BMJ Case Rep, 2015
A 37-year-old man presented with generalised bony pains and severe progressive lower limb proximal weakness of 2 years duration. There was no preceding history of fever, morning stiffness, muscle pain, joint swellings, fractures, skin rashes, photosensitivity, diarrhoeal illness or taking long-term medications for any systemic conditions.
Shetty S, Kapoor N, Cherian VM, Paul TV.
europepmc   +4 more sources

Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness. [PDF]

J Neuromuscul Dis
Slowly progressive proximal muscle weakness in an otherwise healthy male posed particular challenges for the treating physicians, considering the wide range of possible differentials.
Keritam O, Haas P, Klotz S, Kastrati K, Krenn M, Wagner M, Hasenoehrl T, Weng R, Zulehner G, Kasprian G, Regelsberger G, Kiener H, Gelpi E, Zimprich F, Cetin H, Scherer T, Jengojan S.   +16 more
europepmc   +2 more sources

Phenotypical statin‐associated immune‐mediated necrotizing myositis with histological features of inclusion body myositis

Rheumatology & Autoimmunity, 2023
Introduction Statin‐associated immune‐mediated necrotizing myositis (IMNM) is a rare but distinct idiopathic inflammatory myopathy (IIM) that requires early recognition and intervention to prevent irreversible muscle damage. It is typically characterized
Nicole Daver, Sara Tonini
doaj   +1 more source

A 7-year-old boy with dysphagia and proximal muscle weakness. [PDF]

Paediatr Child Health, 2017
Sithambaram S, Tripathi N, Gopal-Kothandapani JS, Mordekar S.   +3 more
europepmc   +4 more sources

Limb Girdle Muscular Dystrophy (LGMD): Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs ...
Shubhangi A. Kanitkar, Meenakshi Kalyan, Anu N. Gaikwad, Ankit Makadia, Harshad Shah   +4 more
doaj   +1 more source

Antineutrophil cytoplasmic antibody-associated vasculitis with predominant truncal muscle weakness: a retrospective case series

Frontiers in Neurology, 2023
IntroductionAntineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) frequently leads to mononeuritis multiplex, which are characterized by distal weakness associated with sensory disturbances.
Joe Nemoto, Hideaki Nishihara, Hideaki Nishihara, Taro Yasuhi, Ryota Sato, Michiaki Koga, Takashi Kanda, Masayuki Nakamori   +7 more
doaj   +1 more source