Phenotypes associated with the disease FLNC-related handgrip and calf weakness-distal myopathy (ORPHA:63273):
- Finger flexor weakness (HP:0031177): Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:63273)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:63273)
- Intrinsic hand muscle atrophy (HP:0008954): Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63273)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63273)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:63273)
- Limited knee flexion (HP:0006389): Reduced ability to flex (bend) the knee joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:63273)
- Hip flexor weakness (HP:0012515): Reduced ability to flex the femur, that is, to pull the knee upward. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:63273)
- Gait imbalance (HP:0002141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:63273)
- Weakness of facial musculature (HP:0030319): Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63273)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63273)
- Hyporeflexia of lower limbs (HP:0002600): Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63273)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63273)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63273)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:63273)
- Fatiguable weakness of proximal limb muscles (HP:0030200): A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63273)
- Decreased finger mobility (HP:0006135). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63273)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63273)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63273)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63273)
Not associated with this disease:
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. (ORPHA:63273)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. (ORPHA:63273)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. (ORPHA:63273)