Cramp disorders

INTRODUCTION: Pediatric prucalopride studies for treatment of gastrointestinal (GI) disorders have reported mixed results. We aimed to assess the safety and effectiveness of prucalopride in functional constipation (FC) with and without upper GI symptoms. METHODS: Retrospective data on patients with FC receiving combined prucalopride and conventional therapy was compared with those receiving conventional therapy alone within 12 months. Thirty patients on combined therapy and those on conventional therapy were each matched on the basis of age, gender, race, and presence of fecal soiling...

Obscurin, encoded by the OBSCN gene, is a muscle protein consisting of three main splice isoforms, obscurin-A, obscurin-B, and obscurin kinase-only protein (also known as KIAA1639 or Obsc-kin). Obscurin is located at the M-band and Z-disks and interacts with titin and myomesin. It plays an important role in the stability and maintenance of the A- and M-bands and the subsarcolemmal organization of the microtubule network. Furthermore, obscurin is involved in Ca2+ regulation and sarcoplasmic reticulum function and is connected to several other muscle proteins...

OBJECTIVE: Jaw symptoms can be a vital clue to the diagnosis of GCA. Guidelines recommend more intensive treatment if jaw claudication is present. We sought to explore how patients with GCA described their jaw symptoms. METHODS: We carried out a secondary, qualitative analysis of interview data from 36 participants from the UK ( n  = 25) and Australia ( n  = 11), originally collected in order to develop a patient-reported outcome measure for GCA...

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Pseudocyesis is a complex psychiatric manifestation of the physical symptoms of pregnancy. Although not pregnant, the pseudocyetic patient displays signs and symptoms consistent with pregnancy, such as abdominal distention, cramping, and/or sensations of fetal movement. Pseudocyesis is more common in developing countries than in the developed world, possibly due to the importance that traditional societies attach to childbearing and the low social status that these societies assign to women who are unable to produce children...

Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect. Causative mutations are mainly identified in structural COX subunits or in proteins involved in the maturation and assembly of the COX holocomplex. We describe an Italian familial case of mitochondrial myopathy due to a variant in the COX assembly factor 8 gene ( COA8 ). Patient 1 is a 52-year-old woman who presented generalized epilepsy and retinitis pigmentosa at 10 years of age...

BACKGROUND: Hereditary spastic paraplegia (HSP) encompass a variety of neurodegenerative disorders that are characterized by progressive deterioration of walking ability and a high risk for long-term disability. The management of problems associated with HSP, such as stiffness, deformity, muscle contractures, and cramping, requires strict adherence to recommended physiotherapy activity regimes. The aim of this paper is to conduct a critical narrative review of the available evidence focusing exclusively to the therapeutic advantages associated with various forms of physical therapy (PT) in the context of HSP, emphasizing the specific benefit of every distinct approach in relation to muscle relaxation, muscle strength, spasticity reduction, improvement of weakness, enhancement of balance, posture, walking ability, and overall quality of life...

McArdle's disease (Glycogen storage disease type V) is a rare inherited autosomal recessive disease involving defect in enzyme, glycogen phosphorylase (PYGM) which results in accumulation of glycogen mainly affecting skeletal muscles. It commonly presents in childhood and rarely in adults with symptoms like exercise intolerance, muscle weakness, cramps and fatigue. Herein, we report an unusual case of a 22 years old male in Pakistan with probable McArdle's Disease presenting with repeated episodes of generalized cramping muscle pain, exercise intolerance and haematuria...

Hypothyroidism is an endocrine disorder which occurs due to a deficiency of thyroid hormones. Hoffmann's syndrome is a rare complication of hypothyroidism - presenting as hypothyroid myopathy. We describe the case of a 20-year-old lactating female patient, with known case of hypothyroidism (diagnosed during her pregnancy and having discontinued treatment following delivery), presenting with complaints of pain, swelling of bilateral calf muscles with cramps in bilateral lower limbs for 1 day. Symptoms of muscle pseudohypertrophy with muscle stiffness are relatively rare in subclinical hypothyroidism and hence, it is important to identify and diagnose this rare condition, and to initiate appropriate treatment...

PURPOSE: To identify sources of information, perceptions, and potential misinformation about menstruation among college-aged men in the United States. METHODS: This is a mixed-methods cross-sectional survey study of students in the United States. Inclusion criteria included participants aged 17-29 years, male gender identity, enrolled as an undergraduate or graduate student, and no personal history of menstruation. RESULTS: This study included 70 participants...

Inflammatory bowel disease (IBD) is a group of chronic disorders, including Crohn's disease (CD) and ulcerative colitis (UC), that contribute to inflammation of the gastrointestinal tract, manifesting as bloody diarrhea, fecal urgency, bloating, cramping, and weight loss. IBD manifests as an exacerbation of these symptoms, which medications with high side effect profiles can manage; consequently, many novel therapies, including biologics such as ustekinumab and vedolizumab, have been developed over the years...

A middle age man complained of progressive bilateral hand tremor and occasional muscle cramps. Examination showed tongue muscle atrophy and limb muscle fasciculation with resting and postural tremor in the upper extremities. Deep tendon reflexes were decreased. He had bilateral breast enlargement. Nerve conduction study and Electromyography revealed chronic sensory-motor neuropathy. DNA analysis identified an expanded number of CAG trinucleotide repeats in the androgen receptor gene consistent with a diagnosis of Kennedy's disease (KD)...

Chronic exertional compartment syndrome is an incapacitating condition that primarily affects athletes and individuals with high activity levels. The exact etiology of the condition is unknown to date, but multiple factors play a role in its occurrence. The clinical presentation includes pain, tightness, muscle weakness, paresthesia, and cramps. Common tools utilized during the diagnostic approach include intramuscular compartment pressure measurement, advanced imaging to exclude other disorder entities, near-infrared spectrometry, and shear wave elastography, with the clinical diagnosis being the gold standard...

Insulin autoimmune syndrome (IAS) is a rare disorder characterised by autoantibodies against endogenous insulin that cause spontaneous hypoglycemic episodes. Here, we present the case of a 66-year-old male with polyarticular pain and dizziness that was initially suspected to be an insulinoma. However, further testing confirmed the presence of IAS. The patient's joint pain fluctuated but improved with the control of blood glucose levels. Although the direct relationship between IAS and joint pain is not well established, individuals with a single autoimmune disorder may develop concurrent autoimmune conditions...

BACKGROUND: Diagnostic questionnaire that are available for restless legs syndrome does not include items related to RLS mimics and, hence, increases chances of false positive cases. This study aimed at modification and validation of RLS-diagnostic Questionnaire. METHODS: During modification, additional items were identified, developed, and subjected to evaluation by experts. Experts were requested to validate the content of each item. Based on their responses, content validity indices (average and universal agreement) were calculated...

BACKGROUND: Diabetic neuropathy is one of the most common complications of diabetes. The synthetic drugs available in the market have side effects and limitations for diabetic patients, the vast majority of whom are in the upper age group. In this regard, based on Persian medicinal sources, Nigella sativa (N. sativa) has proved to have beneficial effects on neuropathic pain and neurological disorders. In this study, the effect of N. sativa is investigated topically in patients with diabetic neuropathy...

INTRODUCTION/AIMS: Hyperexcitable peripheral nerve disorders (HPNDs) are rare. Although their clinical and laboratory features have been well studied, information on treatment and follow-up is limited. The aim of this study is to explore the long-term clinical, investigative, and therapeutic profile of patients with acquired HPNDs. METHODS: This study retrospectively analyzed patients from a single tertiary care center with HPND (January 2012 to January 2022). Patients were recruited according to published inclusion and exclusion criteria...

Dysmenorrhea is a menstrual disorder characterized by painful uterine cramps that occur during menstruation. There are two types of dysmenorrhea, primary and secondary. It affects 45-95% of all menstruating women worldwide. The prevalence in India is approximately 75%. Primary dysmenorrhea diagnosis is based on the patient's medical history and physical examination. If the history of start and duration of lower abdominal discomfort suggests secondary dysmenorrhoea or if the dysmenorrhoea does not respond to medical treatment, a pelvic examination is necessary to evaluate dysmenorrhoea...

Carnitine palmitoyltransferase II (CPT II) deficiency is a long-chain fatty acid (LCFA) oxidation disorder. There are three main types classified by symptoms and age of onset: the neonatal form, the infantile hepatocardiomuscular form, and the adult or myopathic form. The first two are early-onset severe disorders presenting with marked hypoketotic hypoglycemia, cardiomyopathy, and liver dysfunction. The latter is characterized by muscle pain and weakness and stiffness, typically triggered by exercise or febrile illnesses and occasionally associated with myoglobinuria...

BACKGROUND: Morphine is an opiate commonly used in the treatment of moderate to severe pain. However, prolonged administration can lead to physical dependence and strong withdrawal symptoms upon cessation of morphine use. These symptoms can include anxiety, irritability, increased heart rate, and muscle cramps, which strongly promote morphine use relapse. The morphine-induced increases in neuroinflammation, brain oxidative stress, and alteration of glutamate levels in the hippocampus and nucleus accumbens have been associated with morphine dependence and a higher severity of withdrawal symptoms...