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Items: 7

1.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
2.

Vitamin E deficiency

MedGen UID:
775755
Concept ID:
CN117406
Finding
3.

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
4.

Ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs. [from GeneReviews]

MedGen UID:
341248
Concept ID:
C1848533
Disease or Syndrome
5.

Neurodegeneration

Progressive loss of neural cells and tissue. [from HPO]

MedGen UID:
505144
Concept ID:
CN001976
Finding
6.

Upshaw-Schulman syndrome

The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease. [from OMIM]

MedGen UID:
224783
Concept ID:
C1268935
Disease or Syndrome
7.

Asterixis

A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. [from HPO]

MedGen UID:
115916
Concept ID:
C0232766
Sign or Symptom
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