Thomsen disease

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Thomsen disease Classification and external resources
ICD-10	G71.1
ICD-9	359.2
OMIM	160800
DiseasesDB	8736
MeSH	D009224

Thomsen disease, a form of Myotonia congenita, is a muscular genetic disorder characterized by muscle stiffness (cramp) and an inability of the muscle to relax after a voluntary contraction. The affected muscle functions normally after a few repetitions.

Contents 1 Causes 2 Presentation 3 Treatment and prognosis 4 History 5 External links

[edit] Causes

It is associated with mutations in the chloride channel gene CLCN1.

[edit] Presentation

The disorder only affects voluntary muscles, so involuntary muscles such as the heart or muscles involved in the digestion process are not affected.

[edit] Treatment and prognosis

There is no known cure but some drugs may relieve symptoms. These include: Dilantin, Procainamide, Phenytoin and Mexiletine.

The disease is not fatal.

[edit] History

Julius Thomsen, a Danish physician, was the first to describe the disease, citing symptoms of his own family members.

[edit] External links

• synd/3554 at Who Named It

v • d • e Nervous system pathology, primarily PNS (G50-G99, 350-359) Nerve, nerve root and plexus disorders (neuropathy, radiculopathy, plexopathy) cranial nerve: V (Trigeminal neuralgia) - VII (Facial nerve paralysis, Bell's palsy, Melkersson-Rosenthal syndrome, Central seven) - XI (Accessory nerve disorder) nerve root and plexus: Brachial plexus lesion - Thoracic outlet syndrome - Phantom limb mononeuropathy: upper limb (Carpal tunnel syndrome, Ulnar nerve entrapment, Radial neuropathy) - Causalgia - lower limb (Meralgia paraesthetica, Tarsal tunnel syndrome, Morton's neuroma) - Mononeuritis multiplex Polyneuropathies and other disorders of the PNS hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease, Dejerine Sottas syndrome, Refsum's disease) Guillain-Barré syndrome - Alcoholic polyneuropathy Diseases of myoneural junction autoimmune: Myasthenia gravis - Lambert-Eaton myasthenic syndrome Diseases of muscle (myopathy)/ neuromuscular disease Muscular dystrophy myotonic (Myotonic dystrophy, Myotonia congenita, Thomsen disease, Neuromyotonia, Paramyotonia congenita) congenital myopathy (Centronuclear myopathy, Nemaline myopathy, Central core disease) Mitochondrial myopathy periodic paralysis: Hypokalemic - Hyperkalemic Dysautonomia/ Autonomic neuropathy Hereditary sensory and autonomic neuropathy (Familial dysautonomia) - Horner's syndrome - Multiple system atrophy (Shy-Drager syndrome, Olivopontocerebellar atrophy)