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Results: 1 to 20 of 51

1.

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
2.

Stiff-man syndrome

The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder. [from OMIM]

MedGen UID:
39017
Concept ID:
C0085292
Disease or Syndrome
3.

Movement disorder

Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia is abnormal uncontrolled movement and is a common symptom of many movement disorders. Tremors are a type of dyskinesia. . Nerve diseases cause many movement disorders, such as Parkinson's disease. Other causes include injuries, autoimmune diseases, infections and certain medicines. Many movement disorders are inherited, which means they run in families. Treatment varies by disorder. Medicine can cure some disorders. Others get better when an underlying disease is treated. Often, however, there is no cure. In that case, the goal of treatment is to improve symptoms and relieve pain.  [from MedlinePlus]

MedGen UID:
10113
Concept ID:
C0026650
Disease or Syndrome
4.

Cerebral paralysis

birth injury of the brain nerve that controls body movement [from CHV]

MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
5.

Cerebral palsy

MedGen UID:
506891
Concept ID:
CN178306
Disease or Syndrome
6.

Cerebral palsy

Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. [from HPO]

MedGen UID:
451416
Concept ID:
CN116920
Finding
7.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
8.

MedGen UID:
137905
Concept ID:
C0338596
9.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
10.

MedGen UID:
113108
Concept ID:
C0220780
11.

Ataxia

unable to coordinate muscle movement [from CHV]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
12.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
13.

Seizure Disorders

A disorder characterized by recurrent seizures [from SNOMED CT]

MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
14.

Cerebellar ataxia

Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90) [from MeSH]

MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
15.

Symmetrical

MedGen UID:
568391
Concept ID:
C0332516
Finding
16.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
17.

Mode of inheritance

The pattern in which a particular genetic trait or disorder is passed from one generation to the next. [from HPO]

MedGen UID:
504300
Concept ID:
CN000006
Finding
18.

Ataxia

MedGen UID:
472353
Concept ID:
C1135207
Pathologic Function
19.

Ceroid lipofuscinosis, neuronal 3, Juvenile

MedGen UID:
419469
Concept ID:
C2931674
Disease or Syndrome
20.

Seizure

MedGen UID:
409523
Concept ID:
C1959629
Finding

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