- 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: Frequent (HP:0040282). (ORPHA:98912)
- Progressive proximal muscle weakness (HP:0009073): Lack of strength of the proximal muscles that becomes progressively more severe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98912)
- Fatigable weakness of distal limb muscles (HP:0030198): A type of weakness of a skeletal muscle of distal 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: Frequent (HP:0040282). (ORPHA:98912)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98912)
- Leg muscle stiffness (HP:0008969). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98912)
- Weakness of the intrinsic hand muscles (HP:0009005). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98912)
- Weakness of long finger extensor muscles (HP:0009077). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98912)
- Wrist drop (HP:0031189): A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98912)
- Ankle weakness (HP:0031374): Reduced strength of the muscles that lift or otherwise move the foot at the ankle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98912)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- 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: Very rare (HP:0040284). (ORPHA:98912)
- Generalized muscle weakness (HP:0003324): Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- Limb-girdle muscle weakness (HP:0003325): Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- Abnormal left ventricular function (HP:0005162): Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- 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: Very rare (HP:0040284). (ORPHA:98912)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- Decreased patellar reflex (HP:0011808): Decreased intensity of the patellar reflex (also known as the knee jerk reflex). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
- Heart block (HP:0012722): Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98912)
These phenotypes are associated with the disease Late-onset distal myopathy, Markesbery-Griggs type (ORPHA:98912).
The following phenotypes are NOT associated with this disease:
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: TAS. (ORPHA:98912)