Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diagnosing mitochondrial disorder remains a challenge. In a 75-year-old women, with short stature, muscle cramps, ptosis, fasciculations and progressive, proximal limb weakness and wasting, hyponatriemia, abnormal lactate-stress-test, and slightly abnormal electromyography, muscle biopsy suggested granulomatous myositis. Corticosteroids and azathioprin were ineffective. After a second work-up amyotrophic-lateral-sclerosis was diagnosed. Riluzole was started, without effect. She developed respiratory insufficiency, requiring mechanical ventilation. Apical ballooning was found. After switching to non-invasive positive pressure ventilation and physiotherapy, she markedly improved. After a third diagnostic work-up, mitochondrial disorder was suspected. Unfortunately, she died suddenly from a cardiac arrhythmia at home. Mitochondrial disorder may mimic motor neuron disease, muscle biopsy may mimic myositis, and may show only little evidence for respiratory chain disorder.
 ...
PMID:Consequences of misdiagnosing mitochondrial disorder. 1686 Nov 55

Although there are indications that beta-blockers affect the skeletal muscle in therapeutic dosages, their influence on mitochondrial disorders is unknown. A 52-year-old woman developed double vision, myalgias, muscle cramps, and hip and thigh muscle stiffness. Clinical neurologic examination revealed ptosis, dysarthria, sore neck muscles, weakness and wasting of the thighs, and generally brisk tendon reflexes. Lactate stress testing was significantly abnormal. Needle electromyography was nonspecifically abnormal and myopathic. Muscle biopsy showed mild myopathic changes, target fibers, and a single COX-negative fiber. Probable mitochondrial disorder was diagnosed. The patient had been on 30 mg of propranolol during 7 years for arterial hypertension. Shortly after discontinuation of the drug, her double vision gradually disappeared, myalgias and muscle cramps gradually resolved, and the patient reported an increase in muscle mass on repeated follow-ups. Long-term administration of propranolol may aggravate a mitochondrial disorder. Discontinuation of propranolol may result in a gradual resolution of these adverse reactions.
 ...
PMID:Mitochondrial disorder aggravated by propranolol. 1686 49

Takotsubo syndrome may be associated with neuromuscular disorders, but has never been described in a patient with mitochondrial disorder. A 75-year-old woman developed muscle cramps, ptosis, fasciculations and slowly progressive weakness and wasting of all four limbs, starting 2.5 years earlier. After exclusion of various differential diagnoses, including non-specific granulomatous myositis, inclusion body myositis, and motor neuron disease, mitochondrial disorder was assumed. Muscle weakness progressed to respiratory insufficiency, requiring mechanical ventilation. Five days after intubation, she developed hypotension, torsades de pointes, ST-segment elevation, and negative T waves. Echocardiography revealed apical ballooning with akinesia of the left ventricular anteroseptal, apical, apicolateral and inferior segments. Coronary angiography was normal, and ventriculography confirmed apical hypokinesia and ballooning. Takotsubo syndrome was diagnosed, resolving completely within 7 weeks under bisoprolol. This case shows that Takotsubo syndrome occurs also in mitochondrial disorder and under mechanical ventilation, and may be triggered by stress from respiratory insufficiency, intubation, pain from tracheostomy, stress from mechanical ventilation, medication, or from the uncertain prognosis.
 ...
PMID:Apical ballooning (Takotsubo syndrome) in mitochondrial disorder during mechanical ventilation. 1788 29

We describe a 34-year-old patient who was admitted with episodic diplopia, ptosis, and swallowing difficulties of 6 months duration. He also had some muscle cramps aggravated by exercise since the age of 20. Bilateral ptosis of the eyelids, normal gaze, rare fasciculations of the tongue, easy fatigability of ocular and bilateral proximal limb muscles, atrophy of the testes, and gynecomastia were found on neurologic examination. Repetitive nerve stimulation studies and jitter measurement disclosed the defect of neuromuscular junction transmission. Acetylcholine receptor binding antibody was not detected. Acetylcholine esterase inhibitors relieved these episodic symptoms. A genetic study that showed an expansion of cytosine-adenine-guanine (CAG) repeat in the first exon of the androgen receptor (AR) confirmed the diagnosis of X-linked recessive spinal and bulbar muscular atrophy (X-SBMA). Thus, this case shows a rare association of ocular myasthenia gravis with X-SBMA.
 ...
PMID:Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy. 1907 30

The organ most frequently affected in mitochondrial disorders is the skeletal muscle (mitochondrial myopathy). Mitochondrial myopathies may be part of syndromic as well as non-syndromic mitochondrial disorders. Involvement of the skeletal muscle may remain subclinical, may manifest as isolated elevation of the creatine-kinase, or as weakness and wasting of one or several muscle groups. The course of mitochondrial myopathies is usually slowly progressive and only rarely rapidly progressive leading to restriction of mobility and requirement of a wheel chair or even muscular respiratory insufficiency. Frequently reported symptoms of mitochondrial myopathies are permanent tiredness, easy fatigability, muscle aching at rest or already after moderate exercise, muscle cramps, muscle stiffness, fasciculations and muscle weakness. The diagnosis is based on the history, clinical neurologic examination, blood chemical investigations, lactate stress test, electromyography, magnetic resonance imaging, magnetic resonance spectroscopy, muscle biopsy, biochemical investigations of the skeletal muscles, and genetic investigations. Only symptomatic therapy is available and includes physiotherapy and orthopedic supportive devices, diet, symptomatic drug therapy (analgetics, cramp-releasing drugs, antioxidants, lactate-lowering drugs, alternative energy sources, co-factors), avoidance of mitochondrion-toxic drugs, surgery (correction of ptosis or orthopedic problems), and invasive or non-invasive mechanical ventilation. General anesthesia needs to be performed in the same way as in patients with susceptibility for malignant hyperthermia.
 ...
PMID:[Mitochondrial myopathies]. 1989 Jul 72

We report the first detailed accounts of bites by the Balkan adder, Vipera berus bosniensis from Bulgaria. Documentation of bites by this subspecies is very rare in the literature and most available accounts are from the northern limit of its distribution. V. berus bosniensis is considered to possess neurotoxic venom but little evidence has hitherto been available to support this supposition. In this case series symptoms typical of adder bites developed including oedema, nausea, dizziness, lymphangitis, vomiting, and diarrhoea together with aberrant symptoms such as diplopia and ptosis that confirm the presence of neurotoxic venom in Balkan adders. In addition, unusual and atypical symptoms of adder bites such as painless bites and muscle cramps appeared. The inadequate treatment in hospital and the remote habitats in which this species is encountered are potential sources of complication.
 ...
PMID:Envenoming following bites by the Balkan adder Vipera berus bosniensis - first documented case series from Bulgaria. 2082 74

We identified the known c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with PLEC mutations and the role of plectin in the neuromuscular junction.
 ...
PMID:Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features. 3260 89