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Items: 11

1.

Syringomyelia

Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as . -Pain and weakness in the back, shoulders, arms or legs. -Headaches. -Inability to feel hot or cold. Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood. . Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.  [from MedlinePlus]

MedGen UID:
21449
Concept ID:
C0039144
Disease or Syndrome
2.

Palsy

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

MedGen UID:
854494
Concept ID:
C3887651
Finding
3.

Arnold-Chiari type I malformation

MedGen UID:
341782
Concept ID:
C1857474
4.

Chiari malformation type I

Chiari malformation type I (CM1) is the protrusion of the cerebellar tonsils through the foramen magnum, defined radiologically as tonsillar descent of 5 mm or more. CM1 is associated with syringomyelia (see 186700) in up to 80% of cases. Although many individuals with CM1 are asymptomatic, the malformation can cause headaches, ocular disturbances, otoneurologic disturbances, lower cranial nerve signs, cerebellar ataxia, or spasticity. Onset of symptoms is usually in the third decade of life (Speer et al., 2003). Since many cases of CM1 are asymptomatic, prevalence estimates may not be accurate. However, a retrospective investigation of brain MRIs reported the prevalence of CM1 to be 1 in 1,280 individuals (Meadows et al., 2000). [from OMIM]

MedGen UID:
196689
Concept ID:
C0750929
Congenital Abnormality
5.

Acute

Sudden appearance of disease manifestations over a short period of time. [from HPO]

MedGen UID:
61381
Concept ID:
C0205178
Temporal Concept
6.

Hydrosyringomyelia

MedGen UID:
315790
Concept ID:
C1522522
Disease or Syndrome
7.

Abducens palsy

Paralysis of the abducens nerve. [from NCI]

MedGen UID:
78767
Concept ID:
C0271355
Disease or Syndrome
8.

Syringomyelia and syringobulbia

MedGen UID:
508181
Concept ID:
C0039145
Disease or Syndrome
9.

Syringobulbia

MedGen UID:
124368
Concept ID:
C0270771
Congenital Abnormality
10.

Clonus

A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. [from HPO]

MedGen UID:
40341
Concept ID:
C0009024
Sign or Symptom
11.

Babinski sign

Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. [from HPO]

MedGen UID:
19708
Concept ID:
C0034935
Finding
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