Inflammatory joint or muscle disease
Features suggestive of inflammatory joint or muscle disease include:
- Loss of skills (e.g., handwriting), or regression of achieved motor milestones.
- Pain at rest, improving with activity.
- Pain or stiffness after periods of reduced activity (e.g., in the morning, after a long car journey, or after sitting still at school, sometimes called 'gelling').
- Joint contractures: can be due to chronic and / or untreated, joint or muscle disease.
- Toe walking: can be a sign of joint or neurological or muscle disease.
- Muscle cramps with activity and muscle weakness (which may manifest as fatigue).
- Difficulty climbing stairs or difficulty rising from the floor – Gower’s sign (proximal muscle weakness).
- Frequent falling (stumbling), slow eating or drinking with difficulty swallowing or chewing, or a change in voice (e.g., new nasal voice), may be a sign of muscle weakness.
- Muscle tenderness: suggests inflammatory muscle disease.
- Growth faltering more likely consistent with chronic inflammatory conditions.
Features particularly suggestive of inherited myopathies include:
- Delayed milestones (motor and development including speech, feeding).
- Pseudohypertrophy, which classically involves calf muscles (some muscle dystrophies).
- Cardiac disease and/or arrhythmias, which can be associated with muscular dystrophies.
- Family history (of muscle or cardiac diseases) – explore inheritance patterns (in muscular dystrophy and atrophy).
- Muscle wasting or atrophy, which suggests chronicity, can be seen in muscular dystrophy and spinal muscle atrophy.
- Myotonia – which is delayed relaxation of muscles after contraction (e.g., on shaking hands), associated with myotonic dystrophy.