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Autosomal dominant striatal neurodegeneration type 1(ADSD1)

MedGen UID:
934775
Concept ID:
C4310808
Disease or Syndrome
Synonym: Striatal degeneration, autosomal dominant 1
 
Gene (location): PDE8B (5q13.3)
 
Monarch Initiative: MONDO:0012205
OMIM®: 609161

Definition

Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia (summary by Kuhlenbaumer et al., 2004). Genetic Heterogeneity of Autosomal Dominant Striatal Degeneration See also ADSD2 (616922), caused by mutation in the PDE10A gene (610652) on chromosome 6q27. [from OMIM]

Clinical features

From HPO
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hypokinesia
MedGen UID:
39223
Concept ID:
C0086439
Finding
Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Slurred speech
MedGen UID:
65885
Concept ID:
C0234518
Finding
Abnormal coordination of muscles involved in speech.
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Lower limb hyperreflexia
MedGen UID:
322973
Concept ID:
C1836696
Finding
Brisk reflexes
MedGen UID:
382164
Concept ID:
C2673700
Finding
Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Degeneration of the striatum
MedGen UID:
868026
Concept ID:
C4022417
Disease or Syndrome
Symmetric lesions of the basal ganglia
MedGen UID:
870500
Concept ID:
C4024947
Disease or Syndrome
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Diagnosis

Sakai M, Konagaya M, Kuru S, Kato T, Matsuoka Y, Hashizume Y
Acta Neuropathol 2003 Jan;105(1):76-80. Epub 2002 Oct 8 doi: 10.1007/s00401-002-0609-6. PMID: 12471465

Prognosis

Sakai M, Konagaya M, Kuru S, Kato T, Matsuoka Y, Hashizume Y
Acta Neuropathol 2003 Jan;105(1):76-80. Epub 2002 Oct 8 doi: 10.1007/s00401-002-0609-6. PMID: 12471465

Clinical prediction guides

Sakai M, Konagaya M, Kuru S, Kato T, Matsuoka Y, Hashizume Y
Acta Neuropathol 2003 Jan;105(1):76-80. Epub 2002 Oct 8 doi: 10.1007/s00401-002-0609-6. PMID: 12471465

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