congenital myopathy 28 with rigid spine
MONDO:0980756Mondo
Findings
No curated finding names congenital myopathy 28 with rigid spine yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 5 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 2 of 2 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 5 of 5 reported patients
- Rimmed vacuolesHPOHP:0003805
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 5 of 5 reported patients
- Spinal rigidityHPOHP:0003306
- 5 of 5 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 4 of 5 reported patients
- Scapular wingingHPOHP:0003691
- 4 of 5 reported patients
- Distal muscle weaknessHPOHP:0002460
- 3 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 reported patients
- Bulbar palsyHPOHP:0001283
- 1 of 5 reported patients
- MyositisHPOHP:0100614
- 0 of 4 reported patients
Show the remaining 3
- PtosisHPOHP:0000508
- 0 of 5 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 0 of 5 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 0 of 5 reported patients