ABSTRACT
Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified dHMNs into seven categories based on clinical and genetic criteria. We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan. Onset of the disease is between 6 and 10 years of age and is characterized by weakness and atrophy of the lower limbs associated with pyramidal features. Within 2 years, symptoms progress to the upper limbs. Neurophysiological studies typically show normal conduction velocities, reduced compound motor action potential amplitudes, normal sensory nerve action potentials, and chronic neurogenic changes on needle electromyography. No significant abnormalities are seen on sural nerve biopsy. We call this novel form of dHMN Jerash hereditary motor neuronopathy. We studied the families at the molecular genetic level and mapped the Jerash hereditary motor neuronopathy gene to an approximately 0.54-cM region on chromosome 9p21.1-p12, flanked by microsatellite polymorphic marker loci D9S1845 and D9S1791. A maximum LOD score of 19.80 at theta = 0.001 was obtained between the disease and locus D9S1878.
Subject(s)
Chromosomes, Human, Pair 9/genetics , Hereditary Sensory and Motor Neuropathy/genetics , Adolescent , Adult , Child , Chromosome Mapping , Female , Hereditary Sensory and Motor Neuropathy/physiopathology , Humans , Lod Score , Male , Neural Conduction/genetics , Neural Conduction/physiology , PedigreeABSTRACT
There is little published on the diagnostic value of short duration outpatient video electroencephalographic (VEEG) monitoring in children. The authors performed a prospective study on 37 patients (mean age = 10.4 years), with daily paroxysmal events who underwent short duration (mean = 3.2 hours) outpatient VEEG monitoring. Events were detected in 23 patients (62.2%), and a change in management as a result of outpatient VEEG monitoring was documented in 25 patients (67.6%). Despite the short duration of the outpatient VEEG in this study, the detection rate was comparable with the previously reported studies with longer duration monitoring. The authors found it convenient for the patient and less costly. The study demonstrated that short duration outpatient VEEG monitoring was able to differentiate between seizures and nonseizures in 11 patients (78.6%) and resulted in changing seizure classification in five patients (62.5%), and in selecting epilepsy surgery candidates in nine patients (60%). Short duration outpatient VEEG is useful as a diagnostic tool in patients with daily paroxysmal events, particularly in identifying nonepileptic events.
