Disease Information for Myotonia congenita (Thomsens d.)

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Hyperextensable Joints Infant
Gray Hair
Gray hair, premature
Hair loss
White Hair
Delayed male adolescence/pubescence
Tongue Protrudes Infant
Cramping in Extremities
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscle spasticity
Muscle stiffness/rigidity
Muscle weakness/with repetitive challenge
Muscles Soft/Doughy Infant
Myokimia/Muscle pulling sensation
Myotonic like rigidity of muscles
Percussion myotonia/delayed sign
Rolling Over Delay Infant
Unable to release/relax grip
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Dysarthria
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Hyporeflexia/DTRs decreased
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Motor slowing
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Apnea In Children
Apnea In Infants/Newborn
Shallow Breathing Infant
Difficulty Talking
Falling
Muscle Wasting/Diffuse
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Muscle disease/Muscular dystrophy
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Hyperprolactinemia
Abnormal Lab Findings - Decreased
IGG/Immunoglobulin G (Lab)
pO2, arterial blood (Lab)
URINE 17-Ketosteroids
Abnormal Lab Findings - Increased
Aldolase, serum (Lab)
Carbon Dioxide Total Content/CO2
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Creatine, serum (Lab)
Insulin level (Lab)
Lactic Dehydrogenase (LDH LH) (Lab)
PCO2, arterial blood (Lab)
Prolactin (Lab)
URINE Creatine
URINE Myoglobin
Diagnostic Test Results
Electrodiagnosis
EMG/Abnormal findings
EMG/Insertional irritability
EMG/Myotonic muscle activity
Pulse oximetry/low O2 saturation
Associated Diseases & Rule outs
Rule Outs
Myotonia atrophica
Associated Disease & Complications
Acidosis, respiratory
Apnea
Breech/difficulty delivery/lie
Cardiac conduction defects
Cognitive/learning disability
Facial nerve palsy/secondary
Gastroparesis/atony
Hypoxemia
Hypoxia, systemic
Myoglobinuria
Myotonia congenita
Neonatal Hypotonia/Floppy Baby Syndrome
Gastropathy Atonic
Akinetic Rigid Syndrome
Facial Paralysis
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Muscle/tendon/extremities (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Leydig cell function decrease/defect
Process
PROCESS/Hereditofamilial (category)
PROCESS/Movement disorder (ex)
Synonyms
Synonym
ATAXIA MUSCULARIS, congenita myotonia, Congenital myotonia, Congenital myotonia autosomal dominant form, Congenital myotonia autosomal dominant form (disorder), Generalized Myotonia of Thomsen, Myoton congenita autoso domin, MYOTONIA CONGEN, Myotonia Congenita, Myotonia congenita autosomal dominant form, MYOTONIA CONGENITA AUTOSOMAL DOMINANT, Myotonia congenital, MYOTONIA HEREDITARIA, THD, THOMSEN DIS, THOMSEN DISEASE, Thomsen Generalized Myotonia, Thomsen Generalized Myotonias, Thomsen myotonia congenita, THOMSENS DIS, Thomsens Disease, Thomsen's disease, Synonym/Myotonia hereditaria, Synonym/Thompsen's disease
Definition

Myotonia Congenita; Subdivisions: Becker Disease; Myotonia Congenita, Autosomal Recessive (MCR); Generalized; Thomsen Disease (THD); Myotonia Congenita, Autosomal Dominant; Myotonia congenita is a rare genetic disorder in which an abnormality of voluntary (skeletal) muscle fiber membranes causes an unusually exaggerated response to stimulation (hyperexcitability); As a result, affected individuals have difficulty relaxing certain muscles after contracting them (myotonia), muscle stiffness (rigidity), and associated symptoms; Such symptoms tend to occur when attempting to move certain muscles after rest; In many cases, individuals with myotonia congenita also have abnormal enlargement of the muscles (hypertrophy), resulting in a "herculean" or "body-builder like" appearance; Two main forms of myotonia congenita have been described: Thomsen disease and Becker disease; In individuals with Thomsen disease, symptoms and findings such as myotonia, associated muscle rigidity, and abnormal muscle enlargement may become apparent from infancy to approximately two to three years of age; In many cases, muscles of the eyelids, hands, and legs may be most affected; Thomsen disease is transmitted as an autosomal dominant trait; In those with Becker disease, symptoms most commonly become apparent between the ages of four to 12 years; As in Thomsen type myotonia congenita, affected individuals develop myotonia, associated muscle rigidity, and abnormal muscle enlargement (hypertrophy); However, in contrast to Thomsen type, such symptoms are progressive and tend to be more severe; In addition, muscle hypertrophy may be particularly striking, and muscle weakness may be present; Becker disease is inherited as an autosomal recessive trait; [NORD]

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External Links Related to Myotonia congenita (Thomsens d.)
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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