Which are the symptoms of Dejerine Sottas Disease?

Symptoms of Dejerine Sottas Disease

Dejerine Sottas Disease, also known as hereditary motor and sensory neuropathy type III (HMSN III), is a rare genetic disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness, sensory loss, and other neurological symptoms. The severity and progression of symptoms can vary among individuals.

Muscle Weakness: One of the primary symptoms of Dejerine Sottas Disease is muscle weakness, which typically begins in the lower limbs and gradually progresses to the upper limbs. The weakness can affect both the muscles responsible for movement (motor weakness) and those involved in maintaining posture.

Sensory Loss: Individuals with Dejerine Sottas Disease often experience sensory loss, which can include decreased sensitivity to touch, temperature, and pain. This sensory impairment can lead to difficulties in detecting injuries or changes in the environment.

Foot Deformities: Many individuals with Dejerine Sottas Disease develop foot deformities, such as high arches (pes cavus) or flat feet. These deformities can contribute to difficulties in walking and maintaining balance.

Delayed Motor Milestones: Children with Dejerine Sottas Disease may experience delays in reaching motor milestones, such as sitting, crawling, or walking. The muscle weakness and sensory loss can significantly impact their ability to develop motor skills.

Loss of Reflexes: Another characteristic feature of Dejerine Sottas Disease is the loss or reduction of deep tendon reflexes, such as the knee jerk reflex. This absence of reflexes is often observed during physical examinations.

Progressive Nature: Dejerine Sottas Disease is a progressive disorder, meaning that symptoms tend to worsen over time. The rate of progression can vary, but in most cases, individuals experience a gradual decline in muscle strength and sensory function.

Balance and Coordination Issues: Due to muscle weakness and sensory loss, individuals with Dejerine Sottas Disease may have difficulties with balance and coordination. This can lead to frequent falls and challenges in performing activities that require precise movements.

Hand Weakness: As the disease progresses, weakness in the hands and fingers becomes more prominent. This can affect fine motor skills, making tasks such as writing, buttoning clothes, or gripping objects challenging.

Neuropathic Pain: Some individuals with Dejerine Sottas Disease may experience neuropathic pain, which is characterized by a burning, tingling, or shooting sensation in the affected areas. This pain can be chronic and significantly impact the individual's quality of life.

Other Symptoms: In addition to the primary symptoms mentioned above, individuals with Dejerine Sottas Disease may also exhibit other signs such as muscle wasting (atrophy), scoliosis (abnormal curvature of the spine), and respiratory difficulties in severe cases.

It is important to note that the symptoms and their severity can vary widely among individuals with Dejerine Sottas Disease. Early diagnosis and appropriate management can help in minimizing the impact of the disease on an individual's daily life and overall well-being.