Phenotypes associated with the disease Charcot-Marie-tooth disease, axonal, type 2JJ (OMIM:621095):
- Achilles tendon contracture (HP:0001771): A contracture of the Achilles tendon. Evidence: PCS. Frequency: 1/1. (PMID:31853710)
- 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: 1/2. (PMID:28754666)
- Hypoesthesia (HP:0033748): Decreased ability to perceive touch. Evidence: PCS. Frequency: 1/2. (PMID:31853710)
- Impaired vibration sensation in the lower limbs (HP:0002166): A decrease in the ability to perceive vibration in the legs. Evidence: PCS. Frequency: 7/7. (PMID:28754666;PMID:31853710)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 0/1. (PMID:31853710)
- 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: 2/7. (PMID:28754666;PMID:31853710)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: PCS. Frequency: 2/2. (PMID:31853710)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: PCS. Frequency: 0/1. (PMID:31853710)
- Abnormal vitamin B12 concentration (HP:0004341): The concentration of vitamin B12 (or one of its metabolites) in the blood circulation is outside the limits of normal. Evidence: PCS. Frequency: 0/1. (PMID:31853710)
- Fatty replacement of skeletal muscle (HP:0012548): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: PCS. Frequency: 2/2. (PMID:31853710)
- Abnormal circulating creatine kinase activity (HP:0040081): Any deviation from the normal activity of creatine kinase in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:31853710)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/7. (PMID:28754666;PMID:31853710)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: PCS. Frequency: 0/5. (PMID:28754666)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: PCS. Frequency: 1/5. (PMID:28754666)
- Decreased sensory nerve conduction velocity (HP:0003448): Reduced speed of conduction of the action potential along a sensory nerve. Evidence: PCS. Frequency: 2/2. (PMID:31853710)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: PCS. Frequency: 0/5. (PMID:28754666)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: PCS. Frequency: 2/2. (PMID:31853710)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 0/1. (PMID:31853710)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 1/5. (PMID:28754666)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 2/2. (PMID:31853710)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 2/2. (PMID:31853710)
- Impaired distal tactile sensation (HP:0006937): A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. Evidence: PCS. Frequency: 6/6. (PMID:28754666;PMID:31853710)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: PCS. Frequency: 0/1. (PMID:31853710)
- Onion bulb formation (HP:0003383): Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. Evidence: PCS. Frequency: 0/1. (PMID:31853710)
- Hip flexor weakness (HP:0012515): Reduced ability to flex the femur, that is, to pull the knee upward. Evidence: PCS. Frequency: 1/1. (PMID:31853710)
- 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: 6/7. (PMID:28754666;PMID:31853710)
- Areflexia of upper limbs (HP:0012046): Inability to elicit tendon reflexes in the upper limbs. Evidence: PCS. Frequency: 1/1. (PMID:31853710)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 5/7. (PMID:28754666;PMID:31853710)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: 1/1. (PMID:31853710)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: PCS. Frequency: 5/5. (PMID:28754666)
- Areflexia of lower limbs (HP:0002522): Inability to elicit tendon reflexes in the lower limbs. Evidence: PCS. Frequency: 1/1. (PMID:31853710)
- 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:28754666)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 2/2. (PMID:31853710)