BOX 20. CHANNELOPATHIES AND RELATED DISORDERS.
| DISORDER | CLINICAL FEATURES | PATTERN OF INHERITANCE | CHROMOSOME | GENE |
|---|---|---|---|---|
|
| ||||
| Chloride Channelopathies | Myotonia | Autosomal dominant | 7q35 | CLC-1 |
| Myotonia Congenita | ||||
| Thomsen’s disease | Myotonia | Autosomal dominant | 7q35 | CLC-1 |
| Becker type | Myotonia + weakness | Autosomal recessive | ||
|
| ||||
| Sodium Channelopathies | Paramyotonia | Autosomal dominant | 17q13.1-13.3 | SCNA4A |
| Paramyotonia Congenita | ||||
|
| ||||
| Hyperkalemic Periodic Paralysis | Periodic paralysis and myotonia and paramyotonia | Autosomal dominant | 17q13.1-13.3 | SCNA4A |
|
| ||||
| Potassium-Aggravated Myotonias | ||||
| Myotonia fluctuans | Myotonia | Autosomal dominant | 17q13.1-13.3 | SCNA4A |
| Myotonia permanens | Myotonia | Autosomal dominant | 17q13.1-13.3 | SCNA4A |
| Acetazolamide-responsive | Myotonia | Autosomal dominant | 17q13.1-13.3 | SCNA4A |
|
| ||||
| Calcium Channelopathies | Periodic paralysis | Autosomal dominant | 1a31-32 | Dihydropyridate receptor |
| Hypokalemic periodic paralysis | ||||
|
| ||||
| Schwartz-Jampel Syndrome (Chondrodystrophic Myotonia) | Myotonia; dysmorphic | Autosomal recessive | 1p34.1-36.1 | Perlecan |
|
| ||||
| Rippling Muscle Disease | Muscle mounding/stiffness | Autosomal dominant | 1q41 3p25 |
Unknown Caveolin-3 |
|
| ||||
| Anderson-Tawil Syndrome | Periodic paralysis, cardiac arrhythmia, dysmorphic | Autosomal dominant | 17q23 | KCMJ2-Kir 2.1 |
|
| ||||
| Brody’s Disease | Delayed relaxation, no myotonia | Autosomal recessive | 16p12 | Calcium-ATPase |
|
| ||||
| Malignant Hyperthermia | Anesthetic induced delayed relaxation | Autosomal dominant | 19q13.1 | Ryanodine receptor |