Considerations about anesthesia in patients suffering from myopathy
2
Citation
3
Reference
20
Related Paper
Citation Trend
Abstract:
Dystrophies are generally classified into progressive, such as Duchenne, Becker, the Emery-Dreifuss, the Central Core, the Nemaline, the King Denborough and congenital and mitochondrial myopathies, which can be present at birth. General anesthesia in myopathic poses several problems. The patient may be a child with initial symptoms, which must be subjected to muscle biopsy or a patient with overt myopathy, with all the events muscular, respiratory and cardiac related to it, to be submitted to any operation under general anesthesia even if regional blocks are also possible. For this reason,Keywords:
Nemaline myopathy
Central core disease
Congenital myopathy
Cite
Nemaline myopathy
Congenital myopathy
Neuromuscular disease
Congenital muscular dystrophy
Muscle weakness
Cite
Citations (0)
Nemaline myopathy, one of the more benign myopathies in older children and adults, may be associated with early death in the neonate and young infant even when there is no obvious clinical progression. Early diagnosis can be made by muscle biopsy in the neonate for aid in the decision-making, discussion with families, and genetic counseling.
Nemaline myopathy
Cite
Citations (43)
Centro-nuclear myopathy is a congenital myopathy characterized by the presence of central nuclei on muscle biopsy. Three clinical forms have been distinguished. Classification depends on the type inherited, age of onset and degree of muscle involvement.We describe the case of a female patient in whom the diagnosis of centro-nuclear myopathy was made at the age of 53. The patient had not been studied previously, but was sent to us by the Department of Anaesthesia. The clinical features had first appeared in infancy. There was no family history of this disorder. Apparently this was a sporadic case.In the differential diagnosis of adult patients with girdle paresthesias centro-nuclear myopathy should be included. This unusual muscle disorder may be need to be considered if anaesthesia is required.
Congenital myopathy
Muscle disorder
Cite
Citations (0)
Congenital myopathies are a group of genetic muscle disorders characterized by early onset weakness and hypotonia, slowly progressive with distinct structural abnormalities in muscle fibers. The congenital myopathies are under recognized and some are associated with life threatening respiratory and cardiac complications. Phenotypic clues are suggestive of certain congenital myopathies and may be confirmed with genetic testing. Limited access to genetic testing has been a major barrier to timely diagnosis. We report a 25-year-old male with an undiagnosed myopathy who developed respiratory failure. As a toddler, he fell easily, and had a weak neck. He ran slower than his peers, had normal cognition and was extremely thin. At age 13 he underwent scoliosis surgery and a muscle biopsy was considered "myopathic". CPK and FSHD1 genetic testing were normal. He was seen at age 23 due to dyspnea. Neck flexion was 3-, neck extension 4, proximal arms 4, and 5- distally. He had weak hip flexors at 3, hip extensors and thigh adductors 4-, and normal distally. He had tight heel cords and a waddling gait. Over one week he had progressive difficulty lying flat, was confused, and found to be hypoxemic and hypercapnic in respiratory failure due to pneumonia, which improved with noninvasive ventilation. The following year genetic testing revealed a homozygous mutation in the selenoprotein (SEPN1) gene c.943G>A p.Gly315Ser. Discussion: The recognition of discriminating features of SEPN1 related myopathy may be life saving. Phenotypic characteristics include: • Mild weakness in childhood, slowly progressive, often axial • Most are ambulatory into adulthood • Rigidity of spine and scoliosis • Early respiratory failure often more severe than limb weakness • Slim build with difficulty gaining weight • Muscle Biopsy: fiber-type disproportion or "minicores" Timely diagnosis may provide anticipatory guidance and appropriate surveillance for improved quality of life.
Cite
Citations (0)
This paper deals with muscular involvement either due to a pure muscle disease or as a myopathic manifestation of systemic disease. Two cases of dystrophia myotonica and one case of centronuclear myopathy are mentioned as examples of muscle disease which can still occur in later life. On the other hand, systemic diseases with muscle involvement are more common and are discussed under suitable headings. Seven cases of this type of myopathy are illustrated in clinical support. Finally, myopathies in the elderly are more common than we realise, and it is reasonable to carry out appropriate investigations in patients with muscular weakness or tenderness.
Muscle disease
Cite
Citations (2)
MUSCLE disorders are commonly generalized and usually symmetrical. However, this is a report of a patient with a congenital hypertrophy of muscle and bone confined to one lower extremity. This child has developed impressive myotonia and later weakness confined to the same extremity and now, at age 15, shows no sign of involvement of the other limbs or muscular groups. The muscular abnormality has been proven to be myopathic in nature. There is no clinical nor electromyographic evidence of myopathy in other parts of the body. A search of the literature has not revealed any case similar to the patient to be presented. Report of a Case A 15-year-old French Canadian girl was admitted to The Montreal Children's Hospital for evaluation of hypertrophy of the right lower extremity (Fig 1). She was born after a normal pregnancy and delivery. At birth it was noted that the right lower limb
Cite
Citations (8)
Objectives: Congenital myopathies are muscle disorders with variable clinical presentation. We present a case with characteristic history who was diagnosed late in the life, with typical findings on pathologic specimen.
Methods: Case report.
Results: The 65-year-old female presents with worsening weakness, restricting daily activities. Weakness is described as proximal muscle weakness which has been slowly progressive. Duration of symptom is since birth and patient has a history of delayed motor development. Patient also has strong family history of similar symptoms with her mother having scoliosis, weakness and high arch feet. Patient has a daughter who also suffers from proximal muscle weakness. The patient’s daughter has 5 kids and 3 of them have similar weakness. Proximal muscle weakness, scoliosis and high arched feet were evident on examination. EMG/Nerve conduction studies revealed findings consistent with “mild myopathy process”. Right deltoid muscle biopsy confirmed myofiber atrophy and myopathy with cores and rods.
Conclusions: Core-rod myopathy is a relatively rare form of congenital myopathy. It is known by the presence of cores and rods in separate regions of same or different muscle fibers. This case highlights the need to obtain neuromuscular evaluation for patients who present early in life with minimal weakness pattern, which is also slowly progressive. Timely evaluation and diagnosis will allow patients to make informed decision regarding their career choices as well as starting a family.
Proximal muscle weakness
Congenital myopathy
Muscle weakness
Nemaline myopathy
Central core disease
Cite
Citations (0)
Bethlem myopathy is a congenital myopathy presenting with muscle weakness and joint abnormalities. Although cardiac involvement is frequent in other inherited myopathies, it has not yet been described in Bethlem myopathy.We report a case of progressive deterioration of left ventricular function during pregnancy in a patient with Bethlem myopathy. Worsening of clinical symptoms, particularly dyspnea, necessitated delivery at 36 2/7 weeks of gestation. Myocardial function recovered postpartum with improvement of clinical symptoms.Bethlem myopathy may be associated with progressive left ventricular dysfunction during pregnancy and may require early delivery.
Cardiac Dysfunction
Cite
Citations (8)
Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year later. After starting appropriate cardiological treatment and non-invasive ventilation, his cardiac and pulmonary functions improved substantially, remaining stable for over the 10 years since diagnosis. In the last two years the patient had a progressive deterioration of respiratory function, enabling him to attend daily activities. Few cases of respiratory failure in patients with adult-onset nemaline myopathy are reported, but the insidious onset in this case is even more unusual. This case highlights the wide spectrum of presenting features of adult-onset nemaline myopathy and the temporary efficacy of non invasive ventilation on respiratory function.
Nemaline myopathy
Cite
Citations (10)
Nemaline myopathy
Muscle disorder
Congenital myopathy
Cite
Citations (6)