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Amyotrophic dystonic paraplegia

MedGen UID:
354871
Concept ID:
C1862956
Disease or Syndrome
Synonyms: Amyotrophic Dystonic Paraplegia
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 105300

Clinical features

Dystonia
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
Bowel incontinence
MedGen UID:
41977
Concept ID:
C0015732
Disease or Syndrome
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Skeletal muscle atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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