The article describes two familial cases of pseudohypertrophic progressive muscular dystrophy with an onset in the pubertal age and a malignant course of the myodystrophic process. The cases presented are the first ever reported in the world literature. The questions of inter- and intrafamilial polymorphism of recessive X-linked forms of progressive muscular dystrophies are discussed.
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Amyotroph Lateral Scler Frontotemporal Degener
January 2025
2nd Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.
Motor Neuron Diseases (MNDs), familial and sporadic, are progressive neurodegenerative disorders that, for an extended period in the past, were considered purely motor disorders. During the course of the disease, however, some patients exhibit concomitant non-motor signs; thus, MNDs are currently perceived as multisystem disorders. Assessment of non-motor symptoms is usually performed clinically, although laboratory tests can also be routinely used to objectively evaluate these symptoms.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Maxillofacial Surgery, Waikato Hospital, Hamilton, New Zealand.
A man in his late 50s was referred by a speech and language therapist for consideration of a palatal lift prosthesis (PLP) to improve his speech intelligibility. He presented with hypokinetic dysarthria characterised by reduced loudness, breathy voice and hypernasality. The patient had a diagnosis of progressive muscular dystrophy and mobilised in a motorised wheelchair.
View Article and Find Full Text PDFJ Sports Sci
January 2025
Metabolism, Nutrition and Strength Training Research Group (GPMENUTF), Department of Physical Education - Federal University of Paraná (UFPR), Curitiba, PR, Brazil.
We investigated the effect of increasing the number of sets per week every fortnight versus performing a constant set volume on muscular adaptations over 12 weeks. Thirty females (RT experience 2.1 ± 1.
View Article and Find Full Text PDFRespir Med Case Rep
January 2025
Department of Rheumatology of Lucania - UOSD of Rheumatology, "Madonna delle Grazie" Hospital, Matera, Italy.
Background: Anti-Ku antibodies are autoantibodies directed against the Ku protein complex involved in DNA repair. They are typically associated with overlap syndromes featuring polymyositis and systemic sclerosis. Isolated pulmonary involvement without myositis is exceedingly rare.
View Article and Find Full Text PDFBrain Behav Immun Health
February 2025
Department of Physiology, School of Medicine, University College Cork, Western Road, Cork, Ireland.
Duchenne muscular dystrophy (DMD), an X-linked neuromuscular disorder, characterised by progressive immobility, chronic inflammation and premature death, is caused by the loss of the mechano-transducing signalling molecule, dystrophin. In non-contracting cells, such as neurons, dystrophin is likely to have a functional role in synaptic plasticity, anchoring post-synaptic receptors. Dystrophin-expressing hippocampal neurons are key to cognitive functions such as emotions, learning and the consolidation of memories.
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