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Items: 20

1.

Myotonia

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. [from HPO]

MedGen UID:
10238
Concept ID:
C0027125
Finding
2.

Myotonic disorder

Diseases characterized by MYOTONIA, which may be inherited or acquired. Myotonia may be restricted to certain muscles (e.g., intrinsic hand muscles) or occur as a generalized condition. [from MeSH]

MedGen UID:
107510
Concept ID:
C0553604
Disease or Syndrome
3.

Myotonia congenita

Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the “warm-up” phenomenon). Muscles are usually hypertrophic. The autosomal recessive form of myotonia congenita is often associated with more severe symptoms than the autosomal dominant form. Individuals with the autosomal recessive form may have progressive, minor distal weakness and attacks of transient weakness brought on by movement after rest. The age of onset is variable: in autosomal dominant myotonia congenita, onset of symptoms is usually in infancy or early childhood; in the autosomal recessive form, the average age of onset is slightly older. In both, onset may be as late as the third or fourth decade of life. [from GeneReviews]

MedGen UID:
10158
Concept ID:
C0027127
Disease or Syndrome
4.

Thomsen and Becker disease

MedGen UID:
798097
Concept ID:
CN205376
Disease or Syndrome
5.

Excitability

MedGen UID:
536361
Concept ID:
C0235169
Sign or Symptom
6.

Congenital myotonia, autosomal dominant form

Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the “warm-up” phenomenon). Muscles are usually hypertrophic. The autosomal recessive form of myotonia congenita is often associated with more severe symptoms than the autosomal dominant form. Individuals with the autosomal recessive form may have progressive, minor distal weakness and attacks of transient weakness brought on by movement after rest. The age of onset is variable: in autosomal dominant myotonia congenita, onset of symptoms is usually in infancy or early childhood; in the autosomal recessive form, the average age of onset is slightly older. In both, onset may be as late as the third or fourth decade of life. [from GeneReviews]

MedGen UID:
422446
Concept ID:
C2936781
Disease or Syndrome
7.

Congenital myotonia, autosomal recessive form

Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the “warm-up” phenomenon). Muscles are usually hypertrophic. The autosomal recessive form of myotonia congenita is often associated with more severe symptoms than the autosomal dominant form. Individuals with the autosomal recessive form may have progressive, minor distal weakness and attacks of transient weakness brought on by movement after rest. The age of onset is variable: in autosomal dominant myotonia congenita, onset of symptoms is usually in infancy or early childhood; in the autosomal recessive form, the average age of onset is slightly older. In both, onset may be as late as the third or fourth decade of life. [from GeneReviews]

MedGen UID:
155852
Concept ID:
C0751360
Disease or Syndrome
8.

Autosomal dominant inheritance

Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous). [from NCI]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
9.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
10.

Generalized

Affecting all regions without specificity of distribution. [from HPO]

MedGen UID:
104661
Concept ID:
C0205246
Spatial Concept
11.

CHARGE association

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotropic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%). Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GeneReviews]

MedGen UID:
75567
Concept ID:
C0265354
Congenital Abnormality; Disease or Syndrome
12.

Spinobulbar atrophy

MedGen UID:
156268
Concept ID:
C0752353
Disease or Syndrome
13.

Muscular Disorders, Atrophic

Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL). [from MeSH]

MedGen UID:
156267
Concept ID:
C0752352
Disease or Syndrome
14.

Disuse muscle atrophy

MedGen UID:
75533
Concept ID:
C0264122
Disease or Syndrome
15.

Muscular dystrophy

Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
44527
Concept ID:
C0026850
Congenital Abnormality; Disease or Syndrome
16.

Neuromuscular Diseases

Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include. -Amyotrophic lateral sclerosis. -Multiple sclerosis. -Myasthenia gravis. -Spinal muscular atrophy. Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.  [from MedlinePlus]

MedGen UID:
10323
Concept ID:
C0027868
Disease or Syndrome
17.

Myopathy

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.  [from MedlinePlus]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
18.

Disorder of musculoskeletal system

A category of diseases that involve muscles and bones. [from NCI]

MedGen UID:
6471
Concept ID:
C0026857
Disease or Syndrome
19.

Paramyotonia congenita/myotonia congenita

MedGen UID:
865305
Concept ID:
C4016868
Congenital Abnormality
20.

Generalized functional disorder

MedGen UID:
533653
Concept ID:
C0231211
Disease or Syndrome
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