It is a familial hereditary disease characterized by prominent symptoms of peroneal muscular atrophy.

bubble_chart Clinical Manifestations

Onset stage [first stage] Weakness and clumsiness in both feet, numbness, and initial atrophy of the peroneal muscles, which gradually extends to the interosseous muscles and calf flexors, eventually affecting the lower one-third of the thigh muscles while the upper part remains completely normal, resulting in a "stork leg" or inverted wine bottle-like deformity. Atrophied muscles may exhibit fasciculations. The Achilles tendon reflex is weakened or absent in the early stages. Due to weakness in dorsiflexion, a equinovarus deformity often develops.

Late stage [third stage] Atrophy of the interosseous muscles and thenar and hypothenar muscles in the hands, leading to a simian hand deformity. However, the atrophy generally does not extend above the elbow joint.

bubble_chart Diagnosis

1. It often has an insidious onset during adolescence, with males being more commonly affected and exhibiting more severe symptoms.
2. In the initial stage [first stage], there is weakness in both feet, clumsiness in movement, numbness, and atrophy of the peroneal muscles, which gradually extends to the interosseous muscles and the flexor muscles of the lower legs. Eventually, it affects the lower one-third of the thigh muscles, while the upper part remains completely normal, forming a "stork leg" or inverted wine bottle-like deformity. Atrophied muscles may exhibit fasciculations. The Achilles tendon reflex is weakened or lost early on. Due to weakness in dorsiflexion, a pes equinovarus deformity often develops.
3. In the late stage [third stage], atrophy of the interosseous muscles, thenar, and hypothenar muscles in the hands occurs, resulting in an ape-like hand deformity. However, the atrophy generally does not extend beyond the elbow joint.
4. Distal limbs exhibit glove-like sensory reduction, often accompanied by swelling, cyanosis, ulcers, and other neurotrophic disturbances. Occasionally, optic atrophy, pupillary changes, ocular tremors, and trigeminal neuralgia may occur.
5. Electromyography shows neurogenic changes combined with myogenic alterations, and there may be slowed motor and sensory conduction velocities.
6. Similar cases or individuals with pes cavus may be found among family members.
7. In the early stages, it is necessary to rule out spinal muscular atrophy, distal muscular dystrophy, and myotonic dystrophy.

bubble_chart Treatment Measures

There is no specific treatment available. Energy mixture, Chinese medicinals, and physical therapy may be tried. Surgical correction can be performed when limb deformities are significant.