We report a 21-year-old man, born out of non-consanguineous parentage, who presented with motor predominant developmental delay, intellectual disability, poor scholastic performance, lethargy, easy fatigability, and gradually progressive proximal muscle weakness with striking muscle enlargement since childhood, mimicking muscular dystrophy. Examination revealed coarse facies, macroglossia, dry scaly skin, and symmetrical hypertrophy of limb and shoulder girdle muscles, producing a "Herculean" appearance. Neurological evaluation demonstrated pseudohypertrophy with percussion-induced transient mounding and delayed tendon reflex relaxation. Investigations confirmed severe hypothyroidism with markedly elevated muscle enzymes, while MRI showed diffuse muscle enlargement with myoedema but without fatty infiltration. These clinical and radiological findings established a diagnosis of Kocher-Debré-Semelaigne/Hoffmann's syndrome. Thyroxine replacement resulted in significant improvement. This case underscores hypothyroidism as a potential reversible endocrine myopathy that can masquerade as muscular dystrophy. Recognition of characteristic systemic, neurological, and imaging features prevents unnecessary invasive or genetic testing and highlights the importance of timely hormone replacement therapy.

Physicians demonstrate differing attitudes about the management of hypothyroid patients on optimal replacement with thyroxine (T4) who have persisting symptoms. The use of liothyronine (T3) as combination therapy (T4+T3) has been promoted, and some patients demonstrate a compelling benefit. They can be identified by delayed relaxation of tendon reflexes, that is, a positive Woltman's sign. This is specific for T3 responders. A generation of Endocrinologists has neglected this useful clinical sign. Patients with autoimmune symptoms and elevated anti-thyroid peroxidase (anti-TPO) antibodies show improvement after total thyroidectomy, but with the risk of significant postoperative complications. This discrete subgroup tends to be disregarded by authorities in the literature. There is a compelling need for further research on the nonsurgical treatment of this subgroup. Many dissatisfied patients have psychosomatic symptoms because of the burden of having a chronic disease, the need to take regular medication, and other psychosocial concerns. They have medically not yet explained symptoms (MNYES) and require support, counselling, and sometimes cognitive behaviour therapy. True thyroxine allergy and/or sensitivity does occur but is extremely rare. These four subgroups could be designated as - (1) T3-hypothyroidism; (2) Anti-TPO-toxic hypothyroidism; (3) Hypothyroidism-in-denial; and (4) Thyroxine- sensitivity. Recognition of these individual categories is necessary to achieve agreement among physicians and to promote further targeted research.

Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle contraction with delayed relaxation) has been reported during the first decade, onset is typically in the third to fourth decade, most commonly with fluctuating or episodic muscle pain that can be debilitating and proximal and axial weakness of the neck flexors and the hip flexors. Subsequently, weakness occurs in the elbow extensors and finger flexors. Facial weakness and weakness of the ankle dorsiflexors are less common. Myotonia rarely causes severe symptoms. In a subset of individuals, calf hypertrophy in combination with brisk reflexes is notable.

The hung-up reflex (HUR) is a tonic reflex response characterized by delayed muscular relaxation following the elicitation of a tendon reflex. First described by Woltman in patients with myxedema and hypothyroidism, it is best demonstrated in the Achilles tendon. Currently, two primary techniques are used for its measurement: photomotography and the anemometer. The pathogenic mechanism underlying this phenomenon is closely linked to the physiological process of cellular membrane recovery, particularly the reabsorption of calcium by the sarcoplasmic reticulum. This sign has been documented in various pathologies, including Huntington's disease, stiff-person syndrome, stiff-limb syndrome, hypothyroidism, myxedema, and Sydenham's chorea. Over time, it has played a significant role in the clinical examination of movement disorders. The objective of this review is to analyze the historical description, pathophysiological mechanisms, and clinical significance of HUR, aiming to enhance the understanding of its presence in different pathological entities and facilitate differential diagnoses.

Background/Objectives: Hereditary spastic paraplegia type 52 (SPG52) is a rare, inherited neurodevelopmental condition passed down in an autosomal recessive pattern. In this report, we describe two siblings from Rwanda who exhibited classic signs of the disorder, including progressive lower-limb spasticity, significant delays in motor development, and exaggerated deep tendon reflexes. Methods: Genetic testing through Whole-Exome Sequencing (WES) reveals a rare homozygous splice-site variant (NM_001128126.3:c.295-3C>A) in the AP4S1 gene. Results: Despite the severity of symptoms, both children responded positively to treatment with muscle relaxants and regular physiotherapy. Notably, MRI scans of the brain and spine showed no structural abnormalities. Conclusions: By documenting this case, we add to the growing understanding of SPG52, particularly within under-represented Sub-Saharan African populations, and underscore the critical role of early genetic testing in guiding timely diagnosis and intervention.

The first months following a spinal cord injury (SCI) are crucial for promoting recovery. However, patients with high SCIs often require prolonged stays in intensive care units (ICUs), delaying optimal rehabilitation due to limited resources. This study examined the safety, feasibility, and effects on spasticity and muscle atrophy of an early rehabilitation technique using non-invasive sensory stimulation and called functional proprioceptive stimulation (FPS).

A specific type of beta-adrenergic receptor was discovered in the decade of 1980s and subsequently recognized as a new type of beta-adrenergic receptor, called beta3-adrenoceptor (β3-AR). β3-AR expresses in different tissues, including adipose tissue, gall bladder, stomach, small intestine, cardiac myocytes, urinary bladder, and brain. Structurally, β3-AR is very similar to β1- and β2-AR and belongs to a G-protein coupled receptor that uses cAMP as an intracellular second messenger. Alternatively, it also activates the NO-cGMP cascade. Stimulation of the β3-AR increases lipolysis, fatty acid oxidation, energy expenditure, and insulin action, leading to anti-obesity and anti-diabetic activity. Moreover, β3-AR differentially regulates the myocardial contraction and relaxes the urinary bladder to balance the cardiac activity and delay the micturition reflex, respectively. In recent years, this receptor has served as an attractive target for the treatment of obesity, type 2 diabetes, congestive heart failure, and overactive bladder syndrome. Several β3-AR agonists are in the emerging stage that can exert novel pharmacological benefits in different therapeutic areas. The present review focuses on the structure, signaling, physiological, and metabolic activities of β3-AR. Additionally, therapeutic approaches of β3-AR have also been considered.

Both myxedema crisis and Sheehan's syndrome are uncommon conditions. The first-time presentation as myxedema crisis is rare in Sheehan's syndrome. The present study describes the case of a 31-year-old female patient who presented with altered sensorium in the emergency room. The patient was not a known case of hypothyroidism, but had a history of secondary amenorrhea and lactation failure following the birth of a child 11 years prior. Upon evaluation, she was found to have hypothermia, hypotension, the delayed relaxation of deep tendon reflexes, bradycardia and hyponatremia, which led to the suspicion of myxedema crisis. Her thyroid function tests were suggestive of secondary hypothyroidism and her pituitary hormonal profile revealed panhypopituitarism. The patient was managed on the lines of myxedema crisis with oral levothyroxine, hydrocortisone infusion, antibiotics and rewarming. Her clinical and biochemical parameters exhibited an improvement; however, her altered sensorium persisted. A repeat neurological examination revealed cogwheel rigidity with paraparesis, which led to the clinical suspicion of acute parkinsonism. Magnetic resonance imaging of the sella and brain was suggestive of an empty sella and extrapontine myelinolysis, substantiating the diagnosis of Sheehan's syndrome with acute parkinsonism. The patient was commenced on levodopa-carbidopa following which there was an improvement in symptoms. The patient improved over the ensuing 6 months and can now perform all household activities. On the whole, the present study indicates that the early suspicion of myxedema crisis, prompt treatment and the recognition of additional aetiology for persistent altered sensorium can result in a successful outcome for the patient.

Primary hypothyroidism is a commonly encountered endocrine disorder and can be associated with pericardial effusion and cardiac tamponade in severe cases. Early detection of hypothyroidism is key since it is a potentially treatable and reversible cause of pericardial effusions. A 53-year-old female was admitted following a fall. The clinical history was remarkable, with symptoms of persistent tiredness and fatigue for six months. She had no known medical conditions and was not taking any regular medications. Vital signs were stable. Physical examination revealed bilateral pitting pedal oedema and a tense abdomen with shifting dullness. Cardiovascular and respiratory examinations were normal. Notably, the patient exhibited delayed relaxation of deep-tendon reflexes bilaterally at the patellar and ankle sites. Pertinent laboratory findings showed an elevated thyroid-stimulating hormone (TSH) level of 151.69 milliunits/L, a low free thyroxine (fT4) level of <5.4 pmol/L, a haemoglobin level of 85 g/L, and a markedly high anti-thyroid peroxidase antibody level of 957.35 IU/mL. An electrocardiogram revealed a normal sinus rhythm with a low-voltage QRS complex. Chest X-ray findings indicated cardiomegaly suggestive of left heart failure. An emergent transthoracic echocardiography (TTE) demonstrated a large pericardial effusion measuring 5.4 cm posterior to the left ventricle. The most likely aetiology in this case was severe primary hypothyroidism. She initially received intravenous liothyronine 10 micrograms every four hours, followed by oral liothyronine 5 micrograms twice a day in conjunction with levothyroxine 100 micrograms once a day. The adrenal reserve assessment was satisfactory. An urgent pericardiocentesis was performed, draining a total of 900 mL of serosanguinous fluid. Serial echocardiograms demonstrated the absence of residual effusion. Hypothyroidism is a relatively uncommon cause of pericardial effusion. By ensuring early detection and appropriate treatment, we can optimise patient outcomes and prevent potential complications associated with untreated hypothyroidism.

A man in his 20s presented with a 6-year history of calf muscle hypertrophy, proximal muscle weakness and muscle cramps. Along with this, he also had patchy hair loss, facial puffiness and slurring of speech. On examination, he had mild symmetrical proximal muscle weakness, a delayed relaxation phase of his deep tendon reflexes and a rare neurological sign of myoedema. His laboratory investigations revealed elevated thyroid-stimulating hormone levels with high creatine kinase levels, and an echocardiogram showed left ventricular systolic dysfunction. He was diagnosed with Hoffman syndrome, a rare pseudohypertrophic myopathy associated with severe and prolonged hypothyroidism. He had an excellent response to thyroid hormone replacement.

Correlations between falls and individual differences in inhibitory control, suggest the ability to suppress automatic, but unwanted, action is important in fall prevention. Response inhibition has been a topic of considerable interest in the cognitive neuroscience community for many decades, bringing a wealth of techniques that could potentially inform assessment of reactive balance. For example, the stop signal task is a popular method to quantify inhibitory control ability.

Tissue Doppler imaging (TDI) is a new technique to measure the myocardial velocities of the avian heart. Using this technique, the present study investigated the influence of isoflurane anesthesia on the systolic and diastolic longitudinal myocardial velocities in racing pigeons.