Spinocerebellar ataxia type 6- MedGen UID:
- 148458
- •Concept ID:
- C0752124
- •
- Disease or Syndrome
Spinocerebellar ataxia type 6 (SCA6) is characterized by adult-onset, slowly progressive cerebellar ataxia, dysarthria, and nystagmus. The age of onset ranges from 19 to 73 years; mean age of onset is between 43 and 52 years. Initial symptoms are gait unsteadiness, stumbling, and imbalance (in ~90%) and dysarthria (in ~10%). Eventually all persons have gait ataxia, upper-limb incoordination, intention tremor, and dysarthria. Dysphagia and choking are common. Visual disturbances may result from diplopia, difficulty fixating on moving objects, horizontal gaze-evoked nystagmus, and vertical nystagmus. Hyperreflexia and extensor plantar responses occur in up to 40%-50%. Basal ganglia signs, including dystonia and blepharospasm, occur in up to 25%. Mentation is generally preserved.
Migraine with or without aura, susceptibility to, 6- MedGen UID:
- 334829
- •Concept ID:
- C1843765
- •
- Finding
Migraine with or without aura, susceptibility to, 5- MedGen UID:
- 334831
- •Concept ID:
- C1843771
- •
- Finding
For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300).
Migraine without aura, susceptibility to, 4- MedGen UID:
- 336040
- •Concept ID:
- C1843773
- •
- Finding
An inherited susceptibility or predisposition to developing migraines without aura.
Migraine with or without aura, susceptibility to, 3- MedGen UID:
- 375283
- •Concept ID:
- C1843782
- •
- Finding
Migraine, familial typical, susceptibility to, 2- MedGen UID:
- 341144
- •Concept ID:
- C1848066
- •
- Finding
Migraine with or without aura, susceptibility to, 11- MedGen UID:
- 387900
- •Concept ID:
- C1857751
- •
- Finding
Migraine with or without aura, susceptibility to, 10- MedGen UID:
- 341839
- •Concept ID:
- C1857752
- •
- Finding
Migraine, with or without aura, susceptibility to, 13- MedGen UID:
- 462258
- •Concept ID:
- C3150908
- •
- Finding
Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.
Advanced sleep phase syndrome 2- MedGen UID:
- 815204
- •Concept ID:
- C3808874
- •
- Disease or Syndrome
Advanced sleep phase syndrome is characterized by very early sleep onset and offset (summary by Jones et al., 1999).
For a discussion of genetic heterogeneity of advanced sleep phase syndrome, see FASPS1 (604348).
Migraine with or without aura, susceptibility to, 1- MedGen UID:
- 854348
- •Concept ID:
- C3887485
- •
- Finding
Migraine is the most common type of chronic, episodic headache, as summarized by Featherstone (1985).
One locus for migraine with or without aura (MGR1) has been identified on chromosome 4q24. Other loci for migraine have been identified on 6p21.1-p12.2 (MGR3; 607498), 14q21.2-q22.3 (MGR4; 607501), 19p13 (MGR5; 607508), 1q31 (MGR6; 607516), 15q11-q13 (MGR7; 609179), 5q21 (with or without aura, MGR8, 609570; with aura, MGR9, 609670), 17p13 (MGR10; 610208), 18q12 (MGR11; 610209), 10q22-q23 (MGR12; 611706), and the X chromosome (MGR2; 300125).
Mutation in the KCNK18 gene (613655) on chromosome 10q25 causes migraine with aura (MGR13; 613656).
See also familial hemiplegic migraine-1 (FHM1; 141500), a subtype of autosomal dominant migraine with aura (MA).