A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy.

We report an unusual patient who, at age 47 years, had presented with complaints of muscle fasciculations. After neurological examination and electromyogram testing, he was diagnosed with motor neuropathy. Over the next 10 years, in addition to fasciculations, he developed numbness in his feet without any other symptoms. His current neurological examination at age 57 years was normal, except for mildly decreased light touch in the anterior portion of both feet. The nerve conduction studies performed repeatedly showed sensorimotor polyneuropathy with demyelination features. Blood tests, including anti-ganglioside antibodies, were normal. Genetic testing revealed two rare variants in trans in the SH3 domain and tetratricopeptide repeats 2gene, c.3413 G>A p.(S1138N) and c.3269 C>G p.(A1090G). Protein modeling suggests that these are disease-producing mutations and likely the cause of the neuropathy of our patient. Our study expands the clinical and genetic spectrum of patients with Charcot-Marie-Tooth disease type 4C.

Lingual fasciculation: A point of call for the diagnosis of amyotrophic lateral sclerosis.

A 60-year-old female patient, with no notable medical history, was referred by the internal medicine department for a dry mouth workup. The clinical examination revealed an absence of dryness, and the presence of lingual fasciculations, associated with difficulties in mastication and phonation. These symptoms appeared spontaneously 9 months before the consultation, after leaving confinement. Given the presence of lingual fasciculations, the diagnostic hypothesis of a neurological pathology, in particular amyotrophic lateral sclerosis (ALS), was suspected. After performing an electromyogram (EMG), the diagnosis of ALS was retained. Riluzole treatment was then started, and physical therapy sessions were scheduled. Riluzole allows an average gain of 4 to 6 months of life expectancy. Speech therapy and physical therapy allow to maintain the functions as long as possible and to improve the end-of-life conditions. The interest of early detection of ALS allows delaying the progression of the disease.

Toxic fasciculations-An unusual presentation of organophosphate poisoning.

The nicotinic symptom in Organo-Phosphate (OP) poisoning is an unusual presentation in an adult, as in our case of a 38-year-old man who also experienced decreased motor power of all limbs and diffuses fasciculation of the tongue and lower limbs.

Deltamethrin Poisoning Mimicking Organophosphate Poisoning: A Case Report.

Deltamethrin is a newer class of insecticide used on crops, pets, and livestock, in home pest control, and malaria vector control belonging to the synthetic pyrethroid group, which is being promoted in the place of organophosphate compounds due to the harmful and persistent effects of the latter. Unfortunately, as its usage increased, so has the number of poisoning cases associated with deltamethrin. Fortunately, the mortality in deltamethrin poisoning cases is low. However, deltamethrin poisoning causes signs and symptoms similar to the clinical features of organophosphate poisoning. This case report is of a 20-year-old man who consumed an unknown substance in a suicidal attempt and presented with clinical signs of organophosphate toxicity. Later the compound was identified as deltamethrin. This case report adds to the medical literature on deltamethrin poisoning. It showed that apart from the similarity in their clinical features in toxicity, deltamethrin can even give a positive result on atropine challenge tests like organophosphate and that the fasciculations induced by deltamethrin may be temporary. This case report will also benefit the clinician in unknown compound poisoning cases as it shows that the clinician can suspect deltamethrin toxicity alongside organophosphate toxicity in the differential diagnosis when the atropine challenge test gives a positive result.

Abdominal Muscle Fasciculations and Amyotrophic Lateral Sclerosis Diagnosis in a Patient Unable to Perform Sit-Ups.

While performing sit-ups, a 70-year-old man was unable to lift his upper body. The abdominal skin reflex was absent, and abdominal ultrasonography showed intermittent, irregular, and localized muscle twitches of the abdominal muscles. Further, electromyography (EMG) detected widespread fasciculations. Amyotrophic lateral sclerosis (ALS) was diagnosed. Muscle ultrasonography (MU) is useful in detecting fasciculations. This technique allows for repeated non-invasive imaging and the assessment of an expansive range of muscles in real-time. It also detects deep abdominal muscles, which are difficult to assess using EMG. MU is particularly beneficial to patients with atypical ALS who experience truncal muscle weakness.

Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis.

BACKGROUND AND OBJECTIVES: Muscle ultrasound (MUS) is an emerging noninvasive tool to identify fasciculations in amyotrophic lateral sclerosis (ALS). We assessed the utility of MUS in detecting fasciculations in suspected ALS patients. METHODS: Thirty-three patients (25 men) with possible (n = 7), probable (n = 12), or definite ALS according to Awaji criteria were studied. Electromyography was done in biceps brachii, quadriceps, and thoracic paraspinal muscles and MUS in biceps, triceps, deltoid, abductor-digiti-minimi, quadriceps, hamstrings, tibialis anterior, thoracic paraspinal, and tongue muscles. RESULTS: The age at onset and illness duration was 49.73 ± 12.7 years and 13.57 ± 9.7 months, respectively. Limb-onset = 24 patients (72.7%) and bulbar-onset = 9 (27.3%). Totally 561 muscles were examined by MUS. Fasciculations were detected in 84.3% of muscles, 98.4% with and 73% without clinical fasciculations (p < 0.001). Fasciculation detection rate (FDR) by MUS was significantly higher in muscles with wasting (95.6%) than without wasting (77.6%, p < 0.001). Compared with EMG, FDR was significantly higher with MUS in quadriceps (81.8% vs. 51.5%, p = 0.002) and thoracic paraspinal muscles (75.8% vs. 42.4%, p = 0.013). The proportion of patients with definite ALS increased from 42% by clinical examination to 70% after combining EMG and MUS findings. CONCLUSIONS: MUS is more sensitive in detecting fasciculations than electromyography (EMG) and provides a safer, faster, painless, and noninvasive alternative to EMG in detecting fasciculations in ALS.

Effect of Non-depolarizing Muscle Relaxants Rocuronium Versus Vecuronium in the Assessment of Post-Succinylcholine Complications in Surgeries Under General Anesthesia: A Randomized Double-Blind Study at a Tertiary Care Hospital.

Background and objective Several drugs have been used to prevent or attenuate succinylcholine-induced muscle fasciculations and myalgia. We designed the present study to evaluate the efficacy of rocuronium (ROC) and vecuronium (VEC) in preventing succinylcholine-induced fasciculations and postoperative myalgia (POM) in patients undergoing surgery under general anesthesia. Materials and methods After obtaining written informed consent, 125 patients were randomly selected to receive either ROC 0.06 mg/kg or VEC 0.01 mg/kg, with both diluted up to 2 ml, 90 seconds before the administration of propofol followed by succinylcholine. A standardized balanced anesthetic technique was used for all patients. The intensity of fasciculations and intubating conditions were assessed using a 4-point rating scale. All patients were evaluated up to the third postoperative day for the presence of POM, the severity of which was graded on a 4-point scale. Results The incidence of post-succinylcholine fasciculations during induction was nil in 74.58% of patients in the ROC group and 51.52% in the VEC group. Mild fasciculation was seen in 22.03% in the ROC group and 33.33% in the VEC group. Moderate fasciculation was seen in 3.39% and 15.15% in ROC and VEC groups respectively. When comparing both the groups, a significant decrease (p=0.015) in intraoperative fasciculation was observed in the ROC group than in the VEC group. Both drugs provided good intubating conditions without any statistical significance and with an overall intubating score of 8-9 in both groups as per Lund. On day one, 91.53% (n=54) of the ROC group and 65.15% (n=43) of the VEC group patients did not have any myalgia symptoms. Mild myalgia was observed in 8.47% (n=5) in the ROC group and 31.82% (n=21) in the VEC group, and only 1.8% had moderate myalgia in the VEC group. The results of the study showed that POM was significantly decreased in the ROC group than in the VEC group on day one (p=0.001). The incidence of POM on day two was significantly low in both groups. There was no statistical significance between the two groups based on Fisher's exact test (p=1.000). None of the patients had myalgia on day three. Conclusion Our results showed that the incidence and severity of fasciculations and POM were significantly decreased by pretreatment with ROC in contrast to that with VEC. Hence, ROC is a better option than VEC to combat succinylcholine-related complications like fasciculation and myalgia.

Fasciculations in Children.

Fasciculations are the most common form of spontaneous muscle contraction. They frequently occur in healthy individuals. However, there are a minority of situations that fasciculations are observed in association with specific neurologic disorders. Publications concerning the evaluation of pediatric patients experiencing fasciculations are limited. These children may undergo invasive or expensive diagnostic investigations that are unnecessary. Moreover, without careful consideration of differential diagnoses, rare neuromuscular disorders that present with fasciculations in the pediatric age group can be under-recognized by pediatric neurologists. This review examines the most important pediatric disorders presenting with fasciculations and other spontaneous muscle contractions to guide pediatric neurologists in evaluating these children.

Benign fasciculations: A follow-up study with electrophysiological studies.

INTRODUCTION/AIMS: Fasciculations can be symptomatic, yet not progress to amyotrophic lateral sclerosis (ALS), a condition categorized as benign fasciculation syndrome (BFS). We aimed to assess electrodiagnostic changes and clinical course over time in patients with BFS. METHODS: This was a retrospective review of medical records of patients who were referred because of a suspicion of ALS or who had directly asked for a consultation because of a personal concern regarding ALS. All clinical and electromyography (EMG) investigations were performed by the same neurologist, following an established protocol. In addition, laboratory testing and imaging studies were performed as determined to be clinically necessary. RESULTS: We included 37 subjects (mean age 46 ± 14.7 y, 29 male, 7 healthcare professionals). Most patients had experienced fasciculations in both upper and lower limb muscles (62.2%); the remaining patients had fasciculations only in their lower limbs. EMG in seven subjects showed chronic neurogenic potentials in addition to fasciculation potentials; all of these were older men. Follow-up data were available in 24 patients (median 4.7 y), 21 with repeat EMGs, including all those with neurogenic EMG changes at baseline (median 6.5 y). Two-thirds of patients reported symptomatic improvement: 57.1% of those with abnormal EMG and 61.1% with normal EMG. The EMG changes were stable. DISCUSSION: Prognosis of BFS is favorable, regardless of minor EMG abnormalities. The latter do not necessarily imply progression to ALS.

Scorpion Stings and Antivenom Use in Arizona.

BACKGROUND: Arizona's rugged desert landscape harbors many venomous animals, including a small nocturnal scorpion, Centruroides sculpturatus, whose venom can cause severe neuromotor disturbance. An effective antivenom is available at selected health care facilities in the state. METHODS: We analyzed 4398 calls of scorpion stings to the Arizona Poison and Drug Information Center (APDIC) in Tucson over a period of 3 years, from January 2017 to December 2019. RESULTS: We followed 1952 (44.4%) of the victims to resolution. We excluded 2253 callers with minimal effects of the sting and 193 victims with possible toxic effects who were lost to follow-up. The most common complaints among callers were pain at the sting site in 88.9% and local numbness in 62.2%. Detailed clinical information was obtained from 593 calls from a health care facility. Neuromotor signs consistent with C. sculpuratus envenomation included nystagmus in 163 (27.5%), hypersalivation in 91 (15.3%), and fasciculations in 88 (14.8%). Antivenom (Anascorp; Rare Disease Therapeutics, Inc., Franklin, Tenn) was administered to 145 patients. Most were children <5 years old (n = 76, or 54.4%); 27 (18.6%) were 5-9 years old and 42 (30.0%) were ≥10 years of age. About half, 79 of 145 (54.5%) victims who received antivenom, met the APDIC recommended use criteria. CONCLUSIONS: Patients treated with antivenom exhibited a rapid resolution of symptoms without immediate or delayed hypersensitivity reactions. We recommend broadened availability of antivenom at sites where it is most needed.

Increased muscle echointensity correlates with clinical disability and muscle strength in chronic inflammatory demyelinating polyneuropathy.

BACKGROUND AND PURPOSE: We evaluated muscle echointensity as a marker for secondary axonal damage in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) using ultrasonography. Findings were correlated with clinical disability and muscular strength. METHODS: Eighty patients with CIDP (40 with typical and 40 with atypical CIDP) were examined clinically, including assessment of Medical Research Council (MRC) sum score and Inflammatory Neuropathy Cause and Treatment Overall Disability Sum Score (INCAT-ODSS). Echointensity in eight proximal and distal muscles of the arms and legs was evaluated by muscle ultrasonography using the Heckmatt scale. RESULTS: Alterations of echointensity occurred most frequently in the distal leg muscles, with a median (range) Heckmatt score of 1.5 (1-4). There were no differences between typical and atypical CIDP patients with regard to Heckmatt score. Alterations of echointensity correlated to disability and muscle strength. The arm score of the INCAT-ODSS correlated to Heckmatt score for the distal arm muscles (r = 0.23, p = 0.046) and the leg score of the INCAT-ODSS correlated to Heckmatt scores for the proximal (r = 0.34, p = 0.002) and distal leg muscles (r = 0.33, p = 0.004). MRC sum score, as well as individual MRC scores for arm and leg muscles, correlated to Heckmatt scores of the corresponding muscle groups (r = -0.25, p = 0.02 for MRC sum score). CONCLUSION: Increased muscle echointensity, reflecting fibrosis and fatty infiltration due to secondary axonal damage, correlated to muscular strength and disability in a large cohort of CIDP patients. Alterations of echointensity occur in both typical and atypical CIDP patients and are pronounced in the distal leg muscles.

HIP ARTHROSCOPY: RESIDUAL CAM DEFORMITY COMBINED WITH LOOSE BONY FRAGMENT IN HIP CAPSULE.

Hip arthroscopy is a minimally invasive, effective and innovative orthopedic procedure with a relatively low rate of complications. In our patient, residual cam deformity and a bone fragment that remained in the front hip capsule after hip arthroscopy performed three years before caused thigh numbness, muscle fasciculations, and paresthesia. It was assumed that the loose bony fragment remained following burring on prior procedure. During hip flexion, neural structures were compressed and caused the mentioned symptoms. Revision hip arthroscopy was performed and the loose fragment in addition to residual cam deformity was removed. Resolution of pain and anterior thigh numbness was reported after the revision surgery.

Fasciculation frequency at the biceps brachii and brachialis muscles is associated with amyotrophic lateral sclerosis disease burden and activity.

INTRODUCTION: Fasciculations are most commonly seen in the biceps brachii muscle in amyotrophic lateral sclerosis (ALS). In this study we have explored the association between fasciculation frequency in a single location-biceps brachii and brachialis muscles (BB), and disease burden and activity. METHODS: Sonographic muscle studies were performed in 90 ALS patients, 47 of whom were seen in subsequent follow-up. The association between fasciculations frequency at the BB and ALS Functional Rating Scale-Revised (ALSFRS-R) and manual muscle testing (MMT) scores was determined. RESULTS: High fasciculation frequency at the BB, where detection rate was the highest, was associated with shorter disease duration, greater muscle thickness, higher MMT scores, and faster rate of decline in ALSFRS-R initially, and MMT subsequently. DISCUSSION: High fasciculation frequency at the BB as determined by sonography, is associated with less impairment at time of examination, and a more active disease with a more rapid progression.

Quantitative sonographic evaluation of muscle thickness and fasciculation prevalence in healthy subjects.

BACKGROUND: In the current study, we aimed to determine normative values for muscle thickness and fasciculation prevalence in healthy subjects. METHODS: We performed a prospective study from October to December 2018 in 65 healthy subjects. All subjects underwent quantitative sonographic evaluation of muscle thickness and fasciculation prevalence in the following 8 muscles: Biceps brachii, abductor pollicis brevis, first dorsal interosseous, abductor digiti minimi, quadriceps, tibialis anterior, extensor digitorum brevis, and abductor hallucis brevis. RESULTS: Subject ages ranged from 21 to 82 years, with 63% women. Normative values for muscle thickness were determined using the fifth percentile. Multivariate regression analysis showed that sex, age, body mass index, and hand dominance affected muscle thickness. Fasciculations were observed frequently only in distal muscles. CONCLUSIONS: Normal values for muscle thickness were determined, and may enhance neuromuscular ultrasound sensitivity and serve as a basis for future studies. Larger series are needed to confirm these values.

Elaborate Tongue Fasciculations Going Down to the Neck: A Rare Case of Sporadic, Young-onset Amyotrophic Lateral Sclerosis with Bulbar Symptoms, from Pakistan.

Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disease, part of the spectrum of motor neuron diseases. This disease is divided on the bases of heritability, with majority of the cases being sporadic and phenotype, with eight recognized patterns-each with its respective symptoms, rate of progression, and prognosis. Here, we report a case of sporadic, bulbar-onset ALS, unique in its presentation as our patient had fully progressed bulbar symptoms, at the age of 28 years-where other cases of bulbar ALS are associated with much older ages and have a predisposition for the female gender. His prominent and elaborate tongue fasciculations going all the way down to the neck and rendering him incapable of holding his tongue out made for an additional reason of our special interest in the case and the keenness to report it.

Normal and abnormal spontaneous activity.

Assessment of spontaneous waveforms recorded in a resting muscle during needle electromyography is important to determine the type of underlying neuromuscular disorder, temporal course of a disease, and severity and prognosis. A variety of different spontaneous waveforms may be recorded. Some waveforms may be recording in patients without neuromuscular disorders, such as end-plate activity or fasciculation potentials, while others occur only in abnormal muscles. Fibrillation potentials are the most common abnormal spontaneous waveform and are encountered in a wide variety of neuromuscular disorders causing denervation or damage to muscle fibers. Myotonic discharges, when diffuse, are seen in a small number of myopathies or muscle channelopathies. Complex repetitive discharges are nonspecific spontaneous waveforms that may be encountered in chronic or longstanding neurogenic or myopathic disorders. Myokymic and neuromyotonic discharges are rare spontaneous waveforms that suggest either focal or diffuse peripheral nerve hyperexcitability. When interpreted in conjunction with voluntary motor unit potentials as well as nerve conduction study findings, spontaneous waveforms are useful to fully assess the types of disorders of patients with neuromuscular complaints.

ULTRASOUND IN THE DIAGNOSIS AND MONITORING OF AMYOTROPHIC LATERAL SCLEROSIS: A REVIEW.

Neuromuscular ultrasound is complementary to electrodiagnostic (EDx) testing and is useful in enhancing the diagnosis of mononeuropathies, peripheral nerve trauma, and demyelinating polyneuropathies. There is increasing interest in using ultrasound both to aid in the diagnosis of amyotrophic lateral sclerosis (ALS) and to monitor its progression. In this article we review the relevant literature on ultrasound in ALS. Ultrasound is more sensitive than EDx in identifying fasciculations in patients with ALS. It can detect decreased muscle thickness, increased muscle echointensity and echovariance, and reduced peripheral nerve size in these patients. Ultrasound is also a helpful tool in assessment of diaphragm function. Although additional studies are required to define the exact role of ultrasound in the evaluation and monitoring of ALS, it can improve the diagnostic yield in patients when ALS is suspected, but insufficiently supported, by clinical and EDx examinations. Muscle Nerve 60: 114-123, 2019.