Phenotypes associated with the disease DNAJB6-related limb-girdle muscular dystrophy D1 (ORPHA:34516):
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:34516)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:34516)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:34516)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:34516)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:34516)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:34516)
- Myofibrillar myopathy (HP:0003715): Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:34516)
- Rimmed vacuoles (HP:0003805): Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:34516)
- Fatty replacement of skeletal muscle (HP:0012548): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:34516)
- Skeletal muscle fibrosis (HP:0030951): Excessive formation of fibrous bands of scar tissue in between muscle fibers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:34516)
- Abnormal muscle fiber morphology (HP:0004303): Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:34516)
- Percussion myotonia (HP:0010548): A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:34516)