Muscle Rigidity in a Newborn Due to Continuous Peripheral Nerve Hyperactivity

Black, Joseph T.; Garcia-Mullin, R; Good, Edward; Brown, Stuart

doi:10.1001/archneur.1972.00490170045007

Cited by 40 publications

(14 citation statements)

References 33 publications

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“…Thus, the clinical, electromyographic and pathological features differ from those found in our cases. Black et al (1972) 14 described muscle stiffness occurring shortly after birth and this persisted until death at 33 days of life. Motor conduction velocity was unobtainable in the peroneal nerve.…”

Section: Resultsmentioning

confidence: 99%

Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives

Lacson

Seshia²,

Sarnat

et al. 1994

Can. j. neurol. sci.

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Abstract:We describe eleven mid-western Canadian aboriginal infants with a unique, progressive muscle disorder. All except one had muscle biopsy and/or autopsy. The infants were normal newborns who rapidly developed rigidity of all skeletal muscles, with early, respiratory insufficiency. Death occurred before 18 months of age. Electromyography showed increased insertion activity and profuse fibrillation potentials; motor unit potentials and interference pattern are normal until late in the course. Pathologic features include progressive, granular to powdery Z-band transformation, myofibrillar loss, and muscle regeneration. SDS-gel electrophoresis of one muscle sample revealed increased 54kDa and reduced 80kDa protein fractions. This disease differs from other conditions with Z-band alterations because of continuous muscle activity and relentless clinical progression. The clinical features, elevated serum creatine kinase, electromyographic and muscle biopsy findings suggest a dystrophic process. The recognition of this condition as an autosomal recessive disorder allows appropriate genetic counselling.Resume: Dystrophic musculaire hypertonique infantile fatale dont l'heredite est autosomale recessive chez les autochtones. Nous decrivons onze nourrissons autochtones de l'ouest canadien atteints d'une affection musculaire progressive. Tous sauf un ont eu une biopsie musculaire et/ou une autopsie. Les nourrissons 6taient normaux a la naissance. lis ont deVeloppe rapidement de la rigiditd de tous les muscles squelettiques avec une insuffisance respiratoire pr6coce et sont ddcfides avant Page de 18 mois. L'electromyographie a montre 1 une activity d'insertion augmentee et des potentiels de fibrillation en abondance; les potentiels de plaques motrices et le trace 1 interfdrentiel fitaient normaux jusqu'a un stade avance de la maladie. A l'anatomopathologie, on remarque une transformation progressive de granulaires a poudreuses des bandes en Z, une perte neurofibrillaire et une regeneration musculaire. L'electrophorese sur gel SDS d'un echantillon musculaire a reVele une augmentation de la fraction protdique de 54kD et une diminution de la fraction de 80kD. Cette maladie est diffeYente des autres affections ou Ton observe des alterations des bandes en Z a cause de Pactivite musculaire continue et de la progression clinique inexorable. Les caracteristiques cliniques, I'elevation de la creatine-kinase, les observations electromyographiques et anatomopathologiques suggerent qu'il s'agit d'un processus dystrophique. L'identification de cette affection comme etant une maladie autosomale recessive permet d'offrir une conseil gdn&ique approprie.

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Section: Resultsmentioning

confidence: 99%

Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives

Lacson

Seshia²,

Sarnat

et al. 1994

Can. j. neurol. sci.

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“…On the other hand, we did not find either cases of hereditary neuromyotonia or descriptions of patients with particular facies and other pe culiar somatic features in the literature. Last but not least, the muscle bioptic findings result is often typical in neuromyotonia be cause of the absence of the type II fibers [5].…”

Section: Discussionmentioning

confidence: 99%

Schwartz-Jampel Syndrome with Autosomal-Dominant Inheritance

et al. 1982

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A 4-year follow-up study of 2 brothers affected by Schwartz-Jampel syndrome is reported. The children, aged 16 and 7 years, respectively, showed the clinical and electromyographical signs of the disorder. Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest in 3 other members of the same family. On the basis of our data, we suggest that inheritance of the Schwartz-Jampel syndrome may not only be recessive, as reported by most authors, but also dominant, with a different clinical expression.

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“…The posture of the last 3 patients mentioned was affected by the severity of involuntary muscle contraction. The body of an infant who was born with abnormal posture due to excessive muscle contraction and who died after 33 days was found to contain traces of insecticide [4]. In these reports, the age of onset ranged from birth to 26 years; there were 5 males and 1 female.…”

Section: Neuromyotonia With Overt Peripheral Neuropathymentioning

confidence: 99%

“…T h e origin of this syndrome from peripheral nerve has been determined by the persistence of muscle activity during general and spinal anesthesia, the graded diminution of muscle activity with progressively more distal nerve blocks, and its abolition by curare [4,12,13,16,18,291. The term neziromyotonta [14, 181 appears to be the simplest and most appropriate to describe the syndrome.…”

mentioning

confidence: 99%

Hyperexcitability of motor and sensory neurons in neuromyotonia

Lance

Burke

Pollard

1979

Annals of Neurology

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Two members of a family with a neuropathy resembling Charcot-Marie-Tooth disease were unable to relax their muscles after voluntary contraction. Muscle spasm often outlasted voluntary contraction by 30 seconds or more before subsiding into myokymia and fasciculations. The posture of the hand during muscle spasm resembled that of tetany, and Trousseau's and Chvostek's signs were present although no abnormality of calcium or magnesium metabolism could be demonstrated. Muscle spasms ceased during medication with carbamazepine, 600 mg daily. Nerve stimulation, electromyography, and regional neuromuscular blockade with curare indicated that the condition originated in peripheral nerve, while microneurographic recordings showed that sensory as well as motor fibers were hyperexcitable. Sural nerve biopsy revealed axonal degeneration involving myelinated and unmyelinated fibers. It was concluded that the neural hyperexcitability is caused by a membrane defect resulting in a low threshold for excitation throughout the length of the axon.

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Muscle Rigidity in a Newborn Due to Continuous Peripheral Nerve Hyperactivity

Cited by 40 publications

References 33 publications

Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives

Autosomal Recessive, Fatal Infantile Hypertonic Muscular Dystrophy Among Canadian Natives

Schwartz-Jampel Syndrome with Autosomal-Dominant Inheritance

Hyperexcitability of motor and sensory neurons in neuromyotonia

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