Word-Finding Difficulties as a Prominent Early Finding in a Later Diagnosis of Attention Deficit Hyperactivity Disorder.

OBJECTIVE: Attention deficit hyperactivity disorder (ADHD) is a common neuropsychological disorder primarily diagnosed in childhood. Early intervention was found to significantly improve developmental outcomes, implicating on the role of early identification of ADHD markers. In the current study, we explored the developmental history of children referred to neurological assessment to identify early ADHD predictors. METHODS: A total of 92 children and adolescents (41 females) recruited at a pediatric neurology clinic, with suspected ADHD (n = 39) or other neurological difficulties (n = 53) such as headaches, seizures, tic disorders, orthostatic hypotension, postischemic stroke, intermittent pain, and vasovagal syncope. Developmental history information was obtained from caregivers, and evaluation for possible ADHD was performed. Developmental details were compared between children with and without current ADHD diagnosis. RESULTS: Word-finding difficulties (WFDs) in preschool age was reported in 30.4% of the sample. Among children diagnosed with ADHD, 43% had WFDs history, compared with only 5% in children without ADHD. Among children with WFDs history, 93% were later diagnosed with ADHD compared with 42% in children without WFDs history. The relationship between WFDs and ADHD was significant (chi-square test [1, N = 92] = 20.478, p < 0.0001), and a logistic regression model demonstrated that asides from a family history of ADHD, the strongest predictor for ADHD in school age children was a history of WFDs. CONCLUSION: Preliminary evidence supports a predictive link between preschool WFDs and later ADHD diagnosis, highlighting the importance of early WFDs clinical attention.

Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect the diagnostic yield?

PURPOSE: When performed correctly, hyperventilation (HV) for three minutes provokes absence seizures in virtually all children, a finding suggestive of a diagnosis of childhood absence epilepsy (CAE). Interestingly, some children experience absence seizures while performing HV in the office yet do not experience absences during HV on subsequent routine EEG. In most instances, HV during routine EEG is performed in the supine position, while in the office HV is done with the child sitting-up. Therefore, we hypothesized that the position in which HV is performed may influence its yield in provoking absence seizures. METHODS: We conducted a randomized multi-center controlled trial among children (4-10 years old) with suspected CAE. During a routine EEG, children were asked to perform HV twice, in the supine and sitting positions. RESULTS: Twenty children (four males) diagnosed with CAE were included in the analysis. Seventeen of the 20 patients experienced absence seizures while sitting and 13 experienced seizures during supine HV (p = 0.031). All patients that had absence seizures during supine HV also had seizures during sitting HV. Among patients with absences in both positions, seizure duration was significantly shorter during sitting HV (mean 8.69 seconds) than during supine HV (mean 12 seconds) (p = 0.042). An opposite tendency was seen in the younger age group (4-7 years), with shorter seizures in the supine HV group (5.6 seconds supine, 7.57 seconds sitting, p = 0.019). CONCLUSIONS: HV in the sitting position may increase the yield of provoking absence seizures during routine EEGs, thereby improving its sensitivity in the diagnosis of CAE.

Clinical Features at the Time of Diagnosis of Benign Epilepsy With Centrotemporal Spikes Do Not Predict Subsequent Seizures.

BACKGROUND: Benign epilepsy with centrotemporal spikes (BECTs) usually follows a self-limited course, with a single or few seizures. Assessing the likelihood of a second seizure after the first event may help establishing the need for antiepileptic drug therapy at the time of diagnosis. We aimed at identifying clinical and/or electrographic features that could predict the occurrence of a second seizure. METHODS: We reviewed the clinical and electroencephalographic (EEG) data of children diagnosed with BECTs between 2006 and 2012. Demographic, clinical, routine, and sleep-deprived EEG findings were analyzed. FINDINGS: Seventy-three patients were reviewed who had been followed for four to 10 years. Age at first seizure ranged between three and 16 years (median nine years). In 28 children the first seizure occurred after 10 years age. Ten children were aged three to six years. EEG data were available for 64 individuals. No specific clinical features or seizure semiology were predictive of a second seizure. Neither the type nor the location of interictal EEG discharges was indicative of a second seizure. Among children whose EEG records depicted sleep-related enhancement of interictal discharges, 58.8% sustained a second seizure. This finding did not reach statistical significance. Forty children sustained a second seizure, mostly within 12 months in 30 (P < 0.0001). Among these 30 children, the second event occurred after a median period of 156 days, compared with 654 days for cases with a second seizure after 12 months. CONCLUSIONS: Neither clinical features, seizure characteristics, nor routine EEG findings were effective in predicting the likelihood of a second seizure in children with BECTs.

Lacosamide for SCN2A-related intractable neonatal and infantile seizures.

Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A-related neonatal seizures, as they counteract the gain-of-function effect of mutated Nav1.2 channels. Additionally, SCBs are beneficial against other sodium and potassium channel-related neonatal seizures. There are, however, few reports describing the effect of the new SCB lacosamide against neonatal and infantile epileptic seizures. We report herein two neonates with intractable neonatal seizures with SCN2A pathogenic missense variants. Both infants showed temporary seizure relief following IV administrations of phenytoin, but were resistant to a combination of antiepileptic drugs, while complete seizure control was achieved following lacosamide administration. We suggest that SCBs, e.g. phenytoin, should be introduced early for refractory neonatal seizures of non-lesional and presumably genetic origin. If any beneficial response to a SCB is noted, this should prompt an initiation of additional SCBs. New clinical trials will provide data on the efficacy and safety of the new SCB lacosamide for genetic neonatal seizures and perhaps neonatal seizures in general.

Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.

PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals. Here, we report a new family with three siblings affected by sensorineural hearing loss and peripheral neuropathy. Autozygosity mapping followed by exome sequencing identified a previously reported homozygous missense mutation in PTRH2 (c.254A>C; p.(Gln85Pro)). Sanger sequencing confirmed that the variant segregated with the phenotype. In contrast to the previously reported patient, the affected siblings had normal intelligence, milder microcephaly, delayed puberty, myopia, and moderate insensitivity to pain. Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to PTRH2 variants.

Serum Ferritin Levels Are Lower in Children With Tic Disorders Compared with Children Without Tics: A Cross-Sectional Study.

OBJECTIVES: Alteration in peripheral iron indices has been reported in a number of movement disorders, particularly Parkinson's disease. We hypothesized that iron stores may be diminished in children at an early stage of tic disorder. METHODS: Using data retrieved from electronic medical records, we compared serum ferritin levels, an indicator of body iron store balance, in drug-naive children diagnosed for the first time with tic disorder (study group; N = 47, 32 boys/15 girls, aged 8.66 ± 3.17 years) compared to age- and sex-matched children with headaches (comparison group, n = 100, 62 boys/38 girls, aged 9.51 ± 3.15 years) treated in the same pediatric neurological clinic. RESULTS: Mean serum ferritin levels were significantly lower (-32%, p = 0.01) in the tic disorder group compared to the headache group. No significant differences were detected in circulatory hemoglobin, iron, transferrin, and platelet count between the two groups. CONCLUSION: Our findings suggest that body iron stores may be reduced in children with recent-onset tic disorder.

Syncope is a frequently under-diagnosed condition in infants and toddlers and has similar features to those seen in adolescents and adults.

AIM: Vagal syncope may not be readily recognised by the caregivers of younger children, often leading to extensive diagnostic evaluation. Our aim was to determine the characteristics of syncope in younger children and to assess whether this age group was more prone to undergoing extensive diagnostic work-ups and receiving wrong aetiological diagnoses. METHODS: We collected clinical data on children up to six years of age, referred to our paediatric neurology clinic between 2007 and 2014 following one or more episodes of sudden loss of consciousness. RESULTS: A family history of syncope was present in 59.5% of the 37 children, and a trigger for syncope was identified in 30 children. Most of the episodes were short, with witnesses reporting an immediate or quick recovery. Most of the children underwent diagnostic procedures, particularly an electroencephalogram, and all the results were normal. Epilepsy did not develop in any of these cases. Syncope recurred in 22 patients during a two-year follow-up. CONCLUSION: Vagal syncope had similar features in toddlers and young children to those seen in adolescents and adults. Its diagnosis should be considered following loss of consciousness due to an identifiable trigger and rapidly regaining consciousness to avoid unnecessary diagnostic procedures and hospitalisation.

Transient Motor Asymmetry Among Infants With Congenital Torticollis-Description, Characterization, and Results of Follow-Up.

AIM: The purpose of this study was to assess the prevalence of transient functional motor asymmetry in infants with congenital postural torticollis. METHODS: This was a retrospective review of the medical records of infants with postural torticollis. We analyzed epidemiological, obstetric, perinatal data, physical therapy, physician assessments, and clinical follow-up for two years after diagnosis. RESULTS: Of 173 children, 44 (25.4%, 95% confidence interval = 19.5 to 32.4) demonstrated functional asymmetry. Demographic and obstetrical data did not differ between the asymmetry/nonasymmetry groups. Delayed motor development (P = 0.01) and plagiocephaly (P = 0.032) were more common in infants with motor asymmetry. No difference was observed in the frequency of referral for further neurological diagnosis between the group with functional asymmetry and that without asymmetry. Among the 44 patients with functional asymmetry, 78% depicted no evidence of torticollis by age two years, and the motor asymmetry had disappeared in 82%. CONCLUSION: Benign, transient functional motor asymmetry occurred in a quarter of infants with congenital postural torticollis. Transient motor delay was also significantly more common in the asymmetry group. In most instances, motor asymmetry and motor delay disappeared by age two years. Plagiocephaly was more common in the asymmetry group. Clinician awareness of this transient asymmetry may have avoided unnecessary diagnostic tests in these infants.

Hyperventilation during routine electroencephalography: are three minutes really necessary?

OBJECTIVE: Hyperventilation induces absence seizures in children with absence epilepsy, and routine electroencephalography studies include three minutes of hyperventilation. We studied the duration of hyperventilation required to provoke a first absence seizure to determine whether three minutes of the procedure are indeed necessary. METHODS: Electroencephalography records of children who experienced absence seizures during hyperventilation were reviewed. The time from hyperventilation onset to a first and further seizure(s) was measured, and the occurrence of absences during the posthyperventilation phase was also noted. RESULTS: Sixty-two studies were evaluated. Mean time from hyperventilation onset to a first absence was 52 seconds (median 32 seconds). The vast majority (85.5%) had an absence within 90 seconds. Most (68%) children sustained a single event. All eight children with posthyperventilation seizures had experienced at least one event during hyperventilation. CONCLUSIONS: Our findings suggest that current guidelines for routine pediatric electroencephalography recording requiring three minutes of hyperventilation may not be clinically necessary. We found that the vast majority of children referred for suspected absence seizures experience a seizure less than 90 seconds after hyperventilation onset, and even more so by 120 seconds. Hence, a larger prospective study is warranted to establish more accurate hyperventilation duration parameters. We also suggest that once an absence seizure has been recorded at any time during hyperventilation, this procedure could be stopped, thus reducing the amount of discomfort for the child.

Apparent Life-Threatening Events: Patients' Health Status at 5 Years of Age.

BACKGROUND: The long-term significance of apparent life-threatening events (ALTE) has not been thoroughly studied. OBJECTIVES: To evaluate, at age 5 years, the health status of consecutive children diagnosed with ALTE in infancy. METHODS: Based on the diagnostic workup, patients were classified into two groups: a 'broad' evaluation group (at least one test/procedure related to each of the five main causes: infectious, metabolic, cardiopulmonary, gastroenterological, neurological), and a 'narrow' workup group whose evaluation did not cover all five domains. Health status around age 5 was obtained from hospital records, community clinics and parents/caregivers. RESULTS: We identified 132 children with ALTE. Choking (49.2%) was the most common description, followed by apnea (13.6%), suspected seizure (12.9%), cyanosis (12.1%), breath-holding spell (8.3%), and pallor (3.8%). A broad diagnostic workup was performed in 62.1% of the infants, and a narrow workup in 37.9%. At age 5 years, 56.8% of the children were healthy; 27.3% reported chronic conditions unrelated to ALTE. Twenty-one children (15.9%) had unrelated neurodevelopmental conditions, mostly attention deficit disorder. One of the 132 ALTE patients relapsed and was eventually diagnosed with epilepsy. CONCLUSIONS: A single episode of ALTE in infancy was neither predictive of nor associated with chronic systemic or neurological-disease at age 5 years.

Yield and clinical efficacy of funduscopic examinations performed in the pediatric emergency room.

UNLABELLED: Consultations by ophthalmologists to rule out papilledema are frequently requested by emergency room (ER) physicians. The clinical setting and optimal timing for examination are not well established, and the impact on patient management is unclear. We evaluated the yield of emergency funduscopic examinations, aiming at establishing the optimal timing and efficacy of the consultation. The medical records of all children aged 0-18 years referred for funduscopic examinations from the ER between June 2010 and May 2011 were reviewed. Of 19,772 ER visits, 1,920 (9.7 %) were seen by an ophthalmologist and 479 (2.4 %) to rule out papilledema. Headache (44.5 %) and head trauma (18.4 %) were the most common indications. Sixty percent of the 479 patients had been symptomatic for <24 h, all having normal eye exams. Only 6/479, with diverse etiologies, depicted papilledema. Among these six children, visual complaints associating with headache were statistically significant to suggest the presence of papilledema (p = 0.014). Seventy-one of the 479 children underwent neuroimaging studies despite normal funduscopic examinations. A single tumor case (medulloblastoma), symptomatic for weeks, had normal funduscopy. CONCLUSION: The vast majority of ER consultations to rule out papilledema show normal findings, particularly among children with signs and symptoms lasting for <24 h. The yield of funduscopy may be higher if visual disturbances are reported. If neuroimaging studies are considered, emergency room ophthalmological consultation is probably not warranted, except for young infants with neurological signs and symptoms in whom retinal hemorrhages suggestive of physical abuse must be ruled out.

The influence of excessive chewing gum use on headache frequency and severity among adolescents.

BACKGROUND: Excessive gum-chewing is underreported as a headache precipitant in children and adolescents. We evaluated the influence of daily excessive gum-chewing in older children and teenagers with chronic headache, emphasizing the impact of habit discontinuation and its reintroduction. METHODS: Patients with chronic headache and excessive gum-chewing were consecutively recruited and asked to fill questionnaire pertaining headache characteristics, potential triggers, family history of headaches, and gum-chewing habits. These individuals were classified into four groups depending on the number of daily hours of gum-chewing. All children discontinued chewing for 1 month, reintroduced the habit, and were reinterviewed after 2 to 4 weeks. RESULTS: Thirty patients (25 girls) were recruited. Median age was 16 years. Most had migraine-like headaches. Following gum-chewing discontinuation, 26 reported significant improvement, including headache resolution in 19. All 20 patients reinstituting the habit reported symptom relapse within days. Duration of headache before discontinuation and the number of daily hours of chewing had no influence on the response to habit discontinuation. CONCLUSION: Excessive daily gum-chewing may be associated with chronic headache and should get more attention in the medical literature. Physician and patient awareness of this association could have a meaningful impact on the quality of life of children and adolescents with chronic headache who chew gum excessively.

Stimulants improve theory of mind in children with attention deficit/hyperactivity disorder.

Impairments in 'theory of mind' (ToM) were linked to social cognition and reciprocal relationships deficits in children with attention deficit/hyperactivity disorder (ADHD). Twenty-four children with ADHD (13 with inattentive type and 11 with combined type, mean age 10.2 years) completed the Interpersonal Reactivity Index (IRI), a self-reported empathy questionnaire. All children performed the 'faux pas' task and a computerized ToM task in two different sessions either with or without administration of methylphenidate (MPH). Administration of MPH was associated with an improvement in cognitive and affective ToM. Children with ADHD-combined type had significantly lower scores in total IRI and the fantasy scale compared to children with ADHD-inattentive type. We conclude that deficits in empathy and ToM may play an important role in the impairments in social cognition and peer relationship in children with ADHD, especially children a hyperactive component. Stimulants may improve ToM and empathic functions. Future studies including larger samples and additional cognitive tasks are warranted in order to generalize these results and to identify possible underlying mechanisms for improvement in ToM following the administration of MPH.

The Israeli retrospective multicenter open-label study evaluating vagus nerve stimulation efficacy in children and adults.

BACKGROUND: The management of intractable epilepsy in children and adults is challenging. For patients who do not respond to anti-epileptic drugs and are not suitable candidates for epilepsy surgery, vagal nerve stimulation (VNS) is a viable alternative for reducing seizure frequency. METHODS: In this retrospective multicenter open-label study we examined the efficacy and tolerability of VNS in patients in five adult and pediatric epilepsy centers in Israel. All patients had drug-resistant epilepsy and after VNS implantation in 2006-2007 were followed for a minimum of 18 months. Patients were divided into two age groups: < 21 and > 21 years old. RESULTS: Fifty-six adults and children had a stimulator implanted in 2006-2007. At 18 months post-VNS implantation, none of the patients was seizure-free, 24.3% reported a reduction in seizures of > or = 75%, 19% reported a 50-75% reduction, and 10.8% a 25-50% reduction. The best response rate occurred in patients with complex partial seizures. Among these patients, 7 reported a > or = 75% reduction, 5 patients a 50-75% reduction, 3 patients a 25-50% reduction, and 8 patients a < 25% reduction. A comparison of the two age groups showed that the older group (< 21 years old) had fewer seizures than the younger group. CONCLUSIONS: VNS is a relatively effective and safe palliative method for treating refractory epilepsy in both adults and children. It is an alternative treatment for patients with drug-resistant epilepsy, even after a relatively long disease duration, who are not candidates for localized epilepsy surgery.

Acute meningitis among infants and toddlers with febrile seizures: time for a reappraisal of the value of a lumbar puncture.

BACKGROUND: Since clinical signs of meningeal irritation in infants may be absent or misleading, the American Academy of Pediatrics in 1996 recommended that a lumbar puncture be performed in young children following a febrile seizure. Recent evidence supports a conservative approach in children who do not look ill at the time of the physician's assessment. Moreover, seizures as the presenting or sole symptom of bacterial meningitis are very rare. OBJECTIVES: To assess physicians' compliance with the Academy's recommendations and to determine the incidence of meningitis among febrile seizure patients, including those who did not undergo the puncture. METHODS: We conducted a retrospective analysis of the number of punctures obtained in febrile seizure patients aged 6-24 months, focusing on the clinician's indications for performing the procedure and on the clinical course of children who did not undergo the puncture. RESULTS: Among 278 patients (84% simple febrile seizure), 52 (18.7%) underwent the procedure. It was performed in 38% of 45 complex febrile seizure cases and in 48% of 91 infants younger than 12 months of age. Aseptic meningitis occurred in two infants, both with post-ictal apathy. Bacterial meningitis was not found and in none of the patients who did not undergo the puncture was meningitis later diagnosed. CONCLUSIONS: Compliance with the Academy's recommendations was low, as emergency room physicians based their decision whether to obtain a lumbar puncture solely on clinical grounds. No case of bacterial meningitis was detected among 278 young children with a febrile seizure, including those who did not undergo the puncture.

Infantile spasms: treatment challenges.

OPINION STATEMENT: Infantile spasms (IS) represent a major therapeutic challenge, as cessation of spasms and normalization of the electroencephalogram (elimination of hypsarrhythmia) are mandatory to prevent cognitive deterioration in previously healthy infants, or to preserve neurocognitive function among those neurologically affected prior to onset of IS. Traditionally, this epilepsy syndrome has been considered a "catastrophic" epilepsy, not only for its frequent refractoriness, but mostly due to its effect on cognition. Nevertheless, a change of attitude among pediatric epileptologists is probably warranted, as enough evidence and clinical experience demonstrate that early, aggressive therapy, especially with adrenocorticotropic hormone (ACTH), may not only lead to cessation of spasms, but often leads to the cure of infants with idiopathic/cryptogenic IS. Some ACTH protocols such as that prescribed in Israel (tetracosactide ACTH) appear to be highly efficacious in guarantying a good or even excellent prognosis in idiopathic IS. Moreover, oral prednisolone is a promising and much less expensive alternative to IM ACTH. Vigabatrin does have a role as a first-line agent, especially for tuberous sclerosis patients, but evidence supports hormonal therapy as the initial treatment. The role of pyridoxine and the ketogenic diet still needs to be established; given the efficacy of a much shorter tetracosactide ACTH protocol, there may be no need for the long-term diet, despite its efficacy. Finally, a very promising drug has been developed (CP-115) that may altogether replace the current therapeutic regimens in the near future.

Clinical characterization of gastroenteritis-related seizures in children: impact of fever and serum sodium levels.

Gastroenteritis-related seizures have increasingly gained attention in recent years. Most cases follow a brief, benign course with very few episodes of seizure recurrence and without development of epilepsy. Published reports usually do not make a distinction between febrile and afebrile patients, and most authors include only nonfebrile convulsions in their reported series. This study evaluated the impact of fever in children presenting with seizures during a mild gastroenteritis episode and found that the presence or absence of fever did not affect seizure characteristics or duration. However, mild hyponatremia affected some seizure features, particularly seizure duration, as hyponatremic children sustained more prolonged seizures than patients with normal serum sodium levels, irrespective of body temperature.

The prevalence of atypical presentations and comorbidities of benign childhood epilepsy with centrotemporal spikes.

PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common epileptic syndrome in childhood. The outcome is usually excellent, but there are some atypical forms of BCECTS with less favorable outcomes. The aim of this study was to delineate the frequency of these atypical features among patients with BCECTS. METHODS: We conducted a retrospective chart study by retrieving the medical records of all consecutive patients with BCECTS who were evaluated in four pediatric neurology outpatient clinics in Israel between the years 1991 and 2008. KEY FINDINGS: A total of 196 patients with BCECTS were identified (78 female and 118 male; mean age at time of diagnosis 7.64 years, range 1.5-14). The mean duration of follow-up was 4.43 years (range 2-11). Nine patients (4.6%) developed electrical status epilepticus in slow waves sleep (ESES) during follow-up, four (2%) had Landau-Kleffner syndrome, three (1.5%) had BCECTS with frequent refractory seizures, two (1%) had BCECTS with falls at presentation, one (0.5%) had a "classic" atypical variant, and one (0.5%) had oromotor dysfunction. None had rolandic status epilepticus. Sixty-one patients (31%) had attention deficit hyperactivity disorder (ADHD), 43 (21.9%) had specific cognitive deficits, and 23 (11.7%) had behavioral abnormalities, including aggressiveness, anxiety disorders, depression, and pervasive developmental disorder (PDD). SIGNIFICANCE: The prevalence of most atypical forms of BCECTS other than ESES is low. There is, however, a high prevalence of ADHD and specific cognitive deficits among patients with BCECTS.

Clinical, electrophysiologic and pathologic findings in 10 patients with myotonic dystrophy 2.

BACKGROUND: Myotonic dystrophy type 2 (DM2) is an autosomal dominant, multisystem disorder caused by a CCTG tetranucleotide repeat expansion located in intron 1 of the zinc finger protein 9 gene (ZNF9 gene) on chromosome 3q 21.3. OBJECTIVES: To describe the clinical, electrophysiologic and pathologic findings in patients with myotonic dystrophy 2. METHODS: We evaluated 10 patients genetically, clinically and electrophysiologically during the years 2007 to 2008. RESULTS: All patients were of Jewish European ancestry. Among affected individuals, eight patients had symptoms of proximal muscle weakness, two had muscle pain, and two exhibited myotonia. On physical examination six patients had severe weakness of hip flexor muscles. Seven individuals underwent cataract surgery, and cardiac involvement was seen in one case. On the initial electromyographic (EMG) examination five patients demonstrated myotonic discharges; repeated studies showed these discharges in nine cases. Six muscle biopsies showed non-specific pathological changes. Seven patients had an affected first-degree relative with either a diagnosed or an undiagnosed muscular disorder consistent with an autosomal dominant trait. CONCLUSIONS: DM2 may often present with proximal muscle weakness without myotonia. EMG may initially fail to show myotonic discharges, but these discharges may eventually show in most cases on repeated EMG. Thus, DM2 may be underdiagnosed and should be included in the differential diagnosis of adult patients of Jewish European ancestry presenting with proximal lower limb weakness.