- Impaired vibration sensation in the lower limbs (HP:0002166): A decrease in the ability to perceive vibration in the legs. Evidence: PCS. Frequency: 8/8. (PMID:40830826)
- 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: 2/8. (PMID:40830826)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: PCS. Frequency: 1/3. (PMID:40830826)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: PCS. Frequency: 6/6. (PMID:40830826)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: PCS. Frequency: 1/6. (PMID:40830826)
- Triceps hyperreflexia (HP:0033204): Increased intensity of the triceps reflex. Evidence: PCS. Frequency: 2/8. (PMID:40830826)
- Biceps hyperreflexia (HP:0033205): Increased intensity of the biceps reflex. Evidence: PCS. Frequency: 2/8. (PMID:40830826)
- Ankle instability (HP:0020309): Failure of ligamentous and muscular structures of the ankle to maintain normal joint alignment during movement, resulting in excessive motion that causes manifestations such as subjective or objective feeling of clunking/clicking in the ankle with movement, ankle 'giving way' or sensation of ankle dislocating. Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/8. (PMID:40830826)
- Distal upper limb amyotrophy (HP:0007149): Muscular atrophy of distal arm muscles. Evidence: PCS. Frequency: 7/8. (PMID:40830826)
- Frequent falls (HP:0002359). Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- Hammertoe (HP:0001765): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: PCS. Frequency: 4/4. (PMID:40830826)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: PCS. Frequency: 6/6. (PMID:40830826)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 4/8. (PMID:40830826)
- Impaired distal proprioception (HP:0006858): A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints. Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- Talipes cavus equinovarus (HP:0004696). Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- 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: 6/6. (PMID:40830826)
- Distal upper limb muscle weakness (HP:0008959): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 6/7. (PMID:40830826)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 1/8. (PMID:40830826)
- 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: 4/4. (PMID:40830826)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: PCS. Frequency: 0/1. (PMID:40830826)
- Impaired tactile sensation (HP:0010830): A reduced sense of touch (tactile sensation). 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: 4/4. (PMID:40830826)
- Sensory ataxia (HP:0010871): Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- 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: 3/8. (PMID:40830826)
- Mildly elevated creatine kinase (HP:0008180). Evidence: PCS. Frequency: 1/1. (PMID:40830826)
- Cervical spondylosis (HP:0008480): Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. Evidence: PCS. Frequency: 2/2. (PMID:40830826)
- 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: 8/8. (PMID:40830826)
- Distal lower limb muscle weakness (HP:0009053): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 8/8. (PMID:40830826)
- Upper limb postural tremor (HP:0007351): A type of tremors that is triggered by holding an arm in a fixed position. Evidence: PCS. Frequency: 2/2. (PMID:40830826)
- Decreased amplitude of sensory action potentials (HP:0007078): A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. Evidence: PCS. Frequency: 8/8. (PMID:40830826)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:40830826)
- 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: 5/8. (PMID:40830826)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: PCS. Frequency: 2/2. (PMID:40830826)
- Distal lower limb amyotrophy (HP:0008944): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 8/8. (PMID:40830826)
These phenotypes are associated with the disease charcot-marie-tooth disease, axonal, type 2MM (OMIM:621488).