Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Background:
NKX2-1
related disorders (also known as brain-lung-thyroid syndrome or benign hereditary chorea 1) are associated with a wide spectrum of symptoms. The core features are various movement disorders, characteristically chorea, less frequently
myoclonus
, dystonia, ataxia; thyroid disease; and lung involvement. The full triad is present in 50% of affected individuals. Numerous additional symptoms may be associated, although many of these were reported only in single cases.
Pituitary
dysfunction was ambiguously linked to
NKX2-1
haploinsufficiency previously.
Case Presentation:
We examined two members of a family with motor developmental delay, mixed movement disorder (
myoclonus
, dystonia and chorea) and endocrinological abnormalities (peripheric thyroid disease, and pituitary hormone deficiencies). Dystonia predominated at the father, and
myoclonus
at the daughter. The father had hypogonadotropic hypogonadism, while the daughter was treated with growth hormone deficiency. Both patients had empty sella on MRI. Candidate gene analyses were negative. Exome sequencing detected a pathogenic stop variation (NM_003317:c.338G>A, p.Trp113
*
) in the
NKX2-1
gene.
Conclusions:
This case study has two highlights. (1) It draws attention to possible pituitary dysfunction in brain-lung-thyroid syndrome, and provide further evidences that this might be linked to loss of function of the
NKX2-1
gene. (2) It underscores the importance of considering
NKX2-1
related disorders in the differential diagnosis of
myoclonus
dystonia.
...
PMID:NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement. 3018 10
