- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 4/6. (PMID:37907725)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 7/7. (PMID:37907725)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: PCS. Frequency: 1/5. (PMID:37907725)
- Fasciculations (HP:0002380): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: PCS. Frequency: 0/8. (PMID:37907725)
- Muscle fiber atrophy (HP:0100295). Evidence: PCS. Frequency: 2/3. (PMID:37907725)
- Fiber type grouping (HP:0033685): An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. Evidence: PCS. Frequency: 2/3. (PMID:37907725)
- Abnormal exteroceptive sensation (HP:0033747): A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. Evidence: PCS. Frequency: 0/7. (PMID:37907725)
- Abnormal sensory nerve conduction velocity (HP:0040132). Evidence: PCS. Frequency: 0/7. (PMID:37907725)
- Angulated muscle fibers (HP:0034045): Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. Evidence: PCS. Frequency: 2/3. (PMID:37907725)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: PCS. Frequency: 0/8. (PMID:37907725)
- 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: PCS. Frequency: 6/8. (PMID:37907725)
- 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: PCS. Frequency: 0/3. (PMID:37907725)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: PCS. Frequency: 0/8. (PMID:37907725)
- Decreased patellar reflex (HP:0011808): Decreased intensity of the patellar reflex (also known as the knee jerk reflex). Evidence: PCS. Frequency: 2/6. (PMID:37907725)
- EMG: neuropathic changes (HP:0003445): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: PCS. Frequency: 6/7. (PMID:37907725)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 0/8. (PMID:37907725)
- Decreased Achilles reflex (HP:0009072): Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 1/1. (PMID:37907725)
- Decreased compound muscle action potential amplitude (HP:0033383): Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. Evidence: PCS. Frequency: 5/7. (PMID:37907725)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 7/8. (PMID:37907725)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: PCS. Frequency: 2/6. (PMID:37907725)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 0/8. (PMID:37907725)
- Absent Achilles reflex (HP:0003438): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 6/7. (PMID:37907725)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:37907725)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 7/8. (PMID:37907725)
- Absent patellar reflexes (HP:0006844): Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. Evidence: PCS. Frequency: 2/8. (PMID:37907725)
These phenotypes are associated with the disease neuronopathy, distal hereditary motor, autosomal dominant 15 (OMIM:621094).