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Cerebral palsy, spastic quadriplegic, 1(CPSQ1)

MedGen UID:
442852
Concept ID:
C2751938
Disease or Syndrome
Synonyms: CPSQ1
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): GAD1 (2q31.1)
OMIM®: 603513

Definition

Cerebral palsy (CP) is defined as a nonprogressive but not unchanging disorder of posture or movement, caused by an abnormality of the brain and first evident at the stage of rapid brain development (Hughes and Newton, 1992). The most common forms result from factors surrounding difficulties before or at birth, such as severe perinatal asphyxia, congenital infection, prematurity, and multiple pregnancy (Blair and Stanley, 1988; Stanley, 1994). More rarely, familial clustering or absence of pre- or postpartum events indicate that there are genetic forms of the disorder (Lynex et al., 2004). Cerebral palsy can be classified according to the type of movement disorder: spastic cerebral palsy accounts for approximately 60% of cases and can be subdivided into hemiplegic, diplegic, quadriplegic, and monoplegic types, whereas other forms include athetoid/dyskinetic, ataxic (605388), and mixed (Gustavson et al., 1969). Genetic Heterogeneity of Spastic Quadriplegic Cerebral Palsy See also CPSQ2 (612900), caused by deletion of the ANKRD15 gene (KANK1; 607704) inherited on the paternal allele, and CPSQ3 (617008), caused by mutation in the ADD3 gene (601568) on 10q24. Related phenotypes that were formerly classified in the CPSQ series include spastic paraplegia-47 (SPG47; 614066), spastic paraplegia-50 (SPG50; 612936), spastic paraplegia-51 (SPG51; 613744), and spastic paraplegia-52 (614067). [from OMIM]

Clinical features

Cerebral palsy
MedGen UID:
854
Concept ID:
C0007789
Disease or Syndrome
A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Spastic diplegia
MedGen UID:
44181
Concept ID:
C0023882
Disease or Syndrome
A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
A reflex characterized by upward movement of the great toe and an outward movement of the rest of the toes, when the sole of the foot is stroked. It is a normal reflex up to the age of two. Its presence beyond that age indicates neurological damage.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
The presence of an abnormal lateral curvature of the spine.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Spastic tetraplegia
MedGen UID:
98433
Concept ID:
C0426970
Disease or Syndrome
A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Global developmental delay
MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

Professional guidelines

PubMed

Ashwal S, Russman BS, Blasco PA, Miller G, Sandler A, Shevell M, Stevenson R; Quality Standards Subcommittee of the American Academy of Neurology.; Practice Committee of the Child Neurology Society.
Neurology 2004 Mar 23;62(6):851-63. PMID: 15037681

Recent clinical studies

Etiology

Brian L, Jessica A B, Tom C
Disabil Rehabil Assist Technol 2013 Sep;8(5):426-33. Epub 2013 Jan 22 doi: 10.3109/17483107.2012.754955. PMID: 23336602
Agnihotri S, Gray J, Colantonio A, Polatajko H, Cameron D, Wiseman-Hakes C, Rumney P, Keightley M
Dev Neurorehabil 2012;15(4):284-97. Epub 2012 May 30 doi: 10.3109/17518423.2012.673178. PMID: 22647080

Diagnosis

Brian L, Jessica A B, Tom C
Disabil Rehabil Assist Technol 2013 Sep;8(5):426-33. Epub 2013 Jan 22 doi: 10.3109/17483107.2012.754955. PMID: 23336602
Agnihotri S, Gray J, Colantonio A, Polatajko H, Cameron D, Wiseman-Hakes C, Rumney P, Keightley M
Dev Neurorehabil 2012;15(4):284-97. Epub 2012 May 30 doi: 10.3109/17518423.2012.673178. PMID: 22647080

Therapy

Brian L, Jessica A B, Tom C
Disabil Rehabil Assist Technol 2013 Sep;8(5):426-33. Epub 2013 Jan 22 doi: 10.3109/17483107.2012.754955. PMID: 23336602

Clinical prediction guides

Brian L, Jessica A B, Tom C
Disabil Rehabil Assist Technol 2013 Sep;8(5):426-33. Epub 2013 Jan 22 doi: 10.3109/17483107.2012.754955. PMID: 23336602
Agnihotri S, Gray J, Colantonio A, Polatajko H, Cameron D, Wiseman-Hakes C, Rumney P, Keightley M
Dev Neurorehabil 2012;15(4):284-97. Epub 2012 May 30 doi: 10.3109/17518423.2012.673178. PMID: 22647080

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