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Items: 1 to 20 of 57

1.

Spastic

of relating to spasm [from CHV]

MedGen UID:
141050
Concept ID:
C0443306
Mental or Behavioral Dysfunction
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 disorders

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

Cerebral palsy

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

Cerebral palsy

MedGen UID:
1462767
Concept ID:
CN807106
Disease or Syndrome
6.

Cerebral palsy

MedGen UID:
1461724
Concept ID:
CN807918
Finding
7.

Palsy

Muscle weakness or paralysis of neurologic origin. [from NCI]

MedGen UID:
854494
Concept ID:
C3887651
Finding
8.

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
9.

Spastic cerebral palsy

A type of cerebral palsy defined by increased tone and pathological reflexes resulting in an abnormal pattern of movement and posture. [from SNOMEDCT_US]

MedGen UID:
137905
Concept ID:
C0338596
Congenital Abnormality; Disease or Syndrome
10.

Acid, Aminobutyric

MedGen UID:
113108
Concept ID:
C0220780
Amino Acid, Peptide, or Protein; Pharmacologic Substance
11.

Ataxia

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

Syndrome

A characteristic symptom complex. [from MeSH]

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

Seizure Disorders

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

Cerebellar ataxia

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

Cerebellar ataxia

MedGen UID:
1462951
Concept ID:
CN807175
Disease or Syndrome
16.

Ataxia

MedGen UID:
1461397
Concept ID:
CN806905
Disease or Syndrome
17.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
18.

Nonprogressive

MedGen UID:
825305
Concept ID:
C3839460
Finding
19.

Symmetry

MedGen UID:
568391
Concept ID:
C0332516
Finding
20.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
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