Dystrophinopathies and Limb-Girdle Muscular Dystrophies

Joypaul²,

et al. 2019

BMC Anesthesiol

Background Limb-girdle muscular dystrophies (LGMDs) belong to few neuromuscular disorders mainly involving pelvic and shoulder girdle muscles. Also, cardiac or pulmonary complications, increased rhabdomyolysis risk when exposed to volatile anesthetics and succinylcholine may increase anesthesia related risks. However, current reports about the anesthesia management of these patients are limited. Case presentation We described our anesthetic management of a 36 years old woman with LGMD 2B receiving arthroscopic knee surgery. In consideration of the high risk of rhabdomyolysis, total intravenous anesthesia (TIVA) was selected for her surgery. Considering the unpredictable respiratory depression, opioid based patient-controlled intravenous analgesia was replaced with an intra-articular cocktail therapy consisting of 20 ml of 0.2% ropivacaine. Also, we reviewed the literatures on anesthetic management of LGMD through searching PubMed, in order to provide a comprehensive and safe guidance for the surgery. Conclusions Carefully conducted general anesthesia with TIVA technique is a good choice for LGMD patients. Neuraxial anesthesia may be used if general anesthesia needs to be avoided. To warrant safe anesthesia for surgery, any decision must be well thought out during perioperative period.

Section: Discussionmentioning

confidence: 99%

Anesthetic management of a patient with limb-girdle muscular dystrophy 2B:CARE-compliant case report and literature review

Joypaul²,

et al. 2019

BMC Anesthesiol

“…There are more than 30 genetic forms recognized, some with adult or late-adult onset. 11 The clinical phenotype of the patient could fit the definition, but the needle EMG showed a neurogenic pattern, serum creatine kinase was normal, and no family history of muscular dystrophies was present, making this diagnosis improbable. 4.…”

Section: Differential Diagnosismentioning

confidence: 94%

Severe cervical compressive polydiscopathic myelopathy with features of motor neuron disease: A case report

Văcăraș

Hapca

Drăghici

et al. 2021

Clinical Case Reports

Cervical myelopathy is a well-known cause of disability among elderly. It is included in the amyotrophic lateral sclerosis (ALS) mimic syndrome and could resemble motor neuron disease. We present the case of a 70-year-old patient with severe cervical compressive polydiscopathic myelopathy with clinical findings of motor neuron disease. Cervical myelopathy is a widely spread cause of disability among elderly. 1 The clinical decline is progressive, and this condition should be taken into consideration in patients over 55 years old with loss of motor control of the upper limbs, gait disorders, or sphincter dysfunction. Quality of life could be severely impaired in these patients, evidence showing that beyond the motor, sensory, and bladder dysfunctions recorded with myelopathy scales, there is also impairment of emotional and mental health. 2 There are several diseases reunited together under the name of amyotrophic lateral sclerosis (ALS) mimic syndrome which can present with a clinical phenotype of motor neuron disease and therefore require to be considered as a differential diagnosis. As ALS is a progressive disease, with disability and with a fatal prognosis, the implications of a misdiagnosis can be of a great importance for patients and their relatives. 3 In population-based studies, it is estimated that 8%-10% of patients referred to a tertiary referral MND (motor neuron disease) center with a diagnosis of ALS will ultimately turn out to have another condition. 4 At the same time, a recent review describes a number of clinical presentations of ALS with (a) motor neuron involvement (ALS or primary lateral sclerosis, or upper motor neuron predominant ALS, or progressive muscular atrophy, or lower motor neuron predominant ALS); (b) bulbar or spinal onset; (c) focal onset (progressive bulbar palsy, pseudobulbar palsy, flail arm and flail leg); and (d) cognitive involvement (ALS with cognitive impairment and ALS with frontotemporal dementia). 5 One of the clinical entities of ALS mimic syndrome that can resemble motor neuron disease is cervical myelopathy, which has a better prognosis than ALS and can be alleviated by neurosurgical intervention in most of the cases. Therefore, a clear separation of these entities at the early stage is mandatory

“…Symptoms include distal and central muscle weakness and selective muscle atrophy, however facial, mouth, and throat muscles are generally not harmed. One of the differences between the two types of limb–girdle muscular dystrophy is the onset time, where in the case of LGMD1 the onset of the diseases is usually in the early ages, while LGMD2 is known to have an adult-onset [ 48 ]. Due to the different types and subtypes, the disorder has variable progressive conditions; however, severe cases involve cardiac and pulmonary abnormalities, leading to lower life expectancy.…”

Section: Classification and Pathogenesis Of Muscular Dystrophiesmentioning

confidence: 99%

Diagnosis of Cardiac Abnormalities in Muscular Dystrophies

et al. 2021

Muscular disorders are mainly characterized by progressive skeletal muscle weakness. There are several aspects that can be monitored, which are used to differentiate between the types of muscular disorders, ranging from the targeted muscle up to the mutated gene. An aspect that holds critical importance when managing muscular dystrophies is that most of them exhibit cardiac abnormalities. Therefore, cardiac imaging is an essential part of muscular disorder monitoring and management. In the first section of the review, several cardiac abnormalities are introduced; afterward, different muscular dystrophies’ pathogenesis is presented. Not all muscular dystrophies necessarily present cardiac involvement; however, the ones that do are linked with the cardiac abnormalities described in the first section. Moreover, studies from the last 3 years on muscular disorders are presented alongside imaging techniques used to determine cardiac abnormalities.