Hyperkalemic periodic paralysis

General Information (adopted from Orphanet):

Synonyms, Signs: ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA
GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE, INCLUDED
HYPP
HyperPP
Familial hyperkalemic periodic paralysis
Hyperkalemic PP
HyperKPP
Familial hyperPP
Gamstorp episodic adynamy
Adynamia episodica hereditaria
Gamstorp disease
Primary hyperkalemic periodic paralysis
Primary hyperPP
Number of Symptoms 42
OrphanetNr: 682
OMIM Id: 170500
ICD-10: G72.3
UMLs: C0238357
C2930895
MeSH: C535409
D020513
MedDRA:
Snomed: 278513006
304737009

Prevalence, inheritance and age of onset:

Prevalence: 0.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic muscular channelopathy
 -Rare genetic disease
Genetic periodic paralysis
 -Rare genetic disease
 -Rare neurologic disease
Muscular channelopathy
 -Rare neurologic disease
Periodic paralysis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000597) Ophthalmoparesis Occasional [Orphanet] 71 / 7739
2
(HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
3
(HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
4
(HPO:0002015) Dysphagia Occasional [Orphanet] 301 / 7739
5
(HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
6
(HPO:0100021) Cerebral palsy Very frequent [Orphanet] 36 / 7739
7
(HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
8
(HPO:0000763) Sensory neuropathy Occasional [Orphanet] 78 / 7739
9
(HPO:0007215) Periodic hyperkalemic paralysis 3 / 7739
10
(HPO:0100749) Chest pain Occasional [Orphanet] 92 / 7739
11
(HPO:0002607) Bowel incontinence Occasional [Orphanet] 33 / 7739
12
(HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
13
(HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
14
(HPO:0002902) Hyponatremia Occasional [Orphanet] 37 / 7739
15
(HPO:0002153) Hyperkalemia Frequent [Orphanet] 25 / 7739
16
(HPO:0002900) Hypokalemia Occasional [Orphanet] 45 / 7739
17
(HPO:0002047) Malignant hyperthermia Occasional [Orphanet] 20 / 7739
18
(HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
19
(HPO:0003752) Episodic flaccid weakness 3 / 7739
20
(HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
21
(HPO:0003712) Skeletal muscle hypertrophy Occasional [Orphanet] 42 / 7739
22
(HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
23
(HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
24
(HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
25
(HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
26
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
27
(HPO:0002486) Myotonia Frequent [Orphanet] Typical [HPO:probinson] 29 / 7739
28
(OMIM) Muscle weakness is predominantly of extremities and tongue 1 / 7739
29
(OMIM) Electrophysiologic studies show abnormal inactivation and delayed repolarization of the SCN4A sodium channel 1 / 7739
30
(OMIM) Attacks precipitated by rest after exercise 1 / 7739
31
(OMIM) Flaccid weakness or paralysis, episodic attacks 3 / 7739
32
(HPO:0003593) Infantile onset 249 / 7739
33
(OMIM) Hyperkalemia during attacks 1 / 7739
34
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
(OMIM) Myotonia is present in majority of cases 1 / 7739
36
(HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
37
(OMIM) Myopathic findings on biopsy have been occasionally reported 1 / 7739
38
(HPO:0100613) Death in early adulthood Occasional [Orphanet] 10 / 7739
39
(OMIM) Attacks precipitated by cold temperature 1 / 7739
40
(HPO:0012719) Functional abnormality of the gastrointestinal tract Occasional [Orphanet] 17 / 7739
41
(HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
42
(OMIM) Attacks precipitated by potassium 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by ...
Clinical Description OMIM Gamstorp (1956, 1963) first described hyperkalemic periodic paralysis, which she called 'adynamia episodica hereditaria.' Attacks were characterized by muscle weakness, i.e., adynamia, rather than by complete paralysis, and occurred with no recognizable periodicity. Myotonia was sometimes coexistent. Samaha ...
Genotype-Phenotype Correlations OMIM Miller et al. (2004) identified mutations in the SCN4A gene in 30 of 47 (64%) kindreds with HYPP; 10 kindreds had the T704M (603967.0001) mutation and 10 had the M1592V (603967.0002) mutation. The average age at onset in ...
Molecular genetics OMIM In 3 of 7 unrelated patients with HYPP, Ptacek et al. (1991) identified the same mutation in the SCN4A gene (T704M; 603967.0001). In a severe form of HYPP with features of PMC, Brancati et al. (2003) identified the ...
Diagnosis GeneReviews Diagnostic criteria. The diagnosis of hyperkalemic periodic paralysis type 1 (hyperPP1) is based on the following findings:...
Clinical Description GeneReviews The attacks of flaccid muscle weakness associated with hyperkalemic periodic paralysis type 1 (hyperPP1) usually begin in the first decade of life and increase in frequency and severity over time. Potassium-rich food or rest after exercise may precipitate an attack [Lehmann-Horn et al 2004]. Also, a cold environment, emotional stress, glucocorticoids, and pregnancy provoke or worsen the attacks....
Genotype-Phenotype Correlations GeneReviews Given the clinical variability within a single family (i.e., among individuals with the same mutation), mutation differences can be interpreted as causing a tendency to develop a feature, rather than actually causing a discrete feature (see Table 2)....
Differential Diagnosis GeneReviews In addition to the allelic disorders described in Genetically Related Disorders, hereditary disorders with periodic paralysis or with hyperkalemia to consider when making the diagnosis of hyperkalemic periodic paralysis type 1 (hyperPP1) are discussed below. Adult onset of clinical manifestations points to other diagnoses such as the Andersen-Tawil syndrome or secondary acquired forms of hyperPP....
Management GeneReviews To establish the extent of disease in an individual diagnosed with hyperkalemic periodic paralysis type 1 (hyperPP1), the following baseline examinations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....