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Items: 8

1.

Adrenomyeloneuropathy

MedGen UID:
315918
Concept ID:
C1527231
Disease or Syndrome
2.

Adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. Adrenomyeloneuropathy (AMN) manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurologic manifestations that resemble AMN but have later onset (age =35 years) and milder disease than do affected males. [from GTR]

MedGen UID:
57667
Concept ID:
C0162309
Disease or Syndrome
3.

Gait ataxia

A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. [from HPO]

MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
4.

Paraparesis, Hypotonic

MedGen UID:
148414
Concept ID:
C0751906
Sign or Symptom
5.

Spinal paraparesis

MedGen UID:
124457
Concept ID:
C0278119
Sign or Symptom
6.

Cerebral paraparesis

MedGen UID:
75810
Concept ID:
C0278118
Sign or Symptom
7.

Progressive spastic paraparesis

MedGen UID:
488935
Concept ID:
C0747251
Sign or Symptom
8.

Recurrent falls

MedGen UID:
473174
Concept ID:
C0458990
Finding
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