myotonia congenita/asthenia

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Transient muscular weakness in severe recessive myotonia congenita. Improvement of isometric muscle force by drugs relieving myotomic stiffness.

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The maximum force of voluntary muscle contraction was registered under isometric conditions in nine patients with recessive myotonia congenita. The recordings were made on the upper arm. Five patients with severe myotonia had a transient weakness after muscle rest. Electromyographic registrations

Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker).

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The isometric force of arm and leg muscles was studied in five unrelated patients with recessive generalized myotonia (Becker). The symptom of myotonia was present mainly in the legs, whereas transient weakness was the prominent symptom in the arms. Tocainide improved both symptoms, although it

An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease.

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We reported a 32-year-old man who was a sporadic case of myotonic syndrome with muscle stiffness or transient weakness of limbs upon initiating movements after rest. On examination, he showed painless myotonia with warm-up phenomenon, Hercules-like hypertrophic musculature and myotonic discharges in

Transient weakness and compound muscle action potential decrement in myotonia congenita.

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Twenty-five Turkish patients with recessive myotonia congenita (RMC), 16 of whom had genetic confirmation, were studied. Nineteen had transient weakness. In the upper extremities, onset age of transient weakness was usually in the early teens. All untreated RMC patients had a compound muscle action

Myotonia congenita--a cause of muscle weakness and stiffness.

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BACKGROUND A 56-year-old woman was referred to a neurogenetic clinic with a history of stiffness and transient weakness. A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy. METHODS Neurological examination,

Case-of-the-month: autosomal recessive myotonia congenita: marked muscle weakness in a 16-year-old boy.

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A 16-year-old boy had a 10-year history of stiffness in leg muscles. There was marked weakness of neck flexors, shoulder abductors, and ankle dorsiflexors, with hypertrophy of most muscle groups and both action and percussion myotonia. The parents were normal. Motor unit potential mean duration was

[Congenital myotonia, muscular weakness treated by exertion and muscular hypertrophy].

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Single fiber EMG and spectral analysis of surface EMG in myotonia congenita with or without transient weakness.

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Single fiber EMG and spectral analysis of surface EMG in myotonia congenita with or without transient weakness.

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Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features.

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Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon

Myotonia levior: contribution to the nosography.

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Two family are described affected by a mild myotonic syndrome, characterized by almost exclusively presence of myotonic phenomenon, in absence of symptoms as muscular weakness, hypotrophy or hypertrophy ("myotonia levior"). The nosographic classification of this disease in the congenital myotonias

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.

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We investigated the skeletal muscle voltage-gated chloride channel gene (CLCN1) in two unrelated Japanese patients with Becker's myotonia congenita. The non-myotonic parents of each patient were consanguineous. The proband of each family shares generalized myotonia, transient weakness after rest,

Na+-K+-ATPase is not involved in the warming-up phenomenon in generalized myotonia.

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The initial temporary weakness that occurs in autosomal-recessive generalized myotonia diminishes with repetitive contractions. Physiological understanding of this phenomenon is incomplete. The underlying hypothesis of our study was that the "warming-up" phenomenon relates to the exercise-related

[Familial case of myotonia with muscular hypertrophy, weakness corrected by effort and atrophy of type II fibers].

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A 35 years old man has a non progressive muscle disease which appeared when he was 6. Clinically, there is a slight muscle hypertrophy, an important spontaneous myotonia and a curious muscle weakness, quite marked on the first efforts, but disappearing entirely after a few muscle contractions. The

Open-label trial of ranolazine for the treatment of myotonia congenita.

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OBJECTIVE To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in patients with myotonia congenita (MC). METHODS Thirteen participants were assessed at baseline and 2, 4, and 5 weeks. Ranolazine was started after baseline

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