Spastic paraplegia familial autosomal recessive form

Spastic paraplegia, familial autosomal recessive form (SPG), also known as hereditary spastic paraplegia (HSP), is a group of inherited disorders characterized by progressive weakness and stiffness of the legs. This condition is caused by the degeneration of the upper motor neurons in the spinal cord, leading to spasticity, a form of muscle stiffness, and eventual paralysis.

Etiology

The familial autosomal recessive form of spastic paraplegia is caused by genetic mutations that are inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition. The specific genes involved can vary among different families or populations. Some of the genes that have been identified in association with SPG include SPG7, SPG11, and SPG15, among others.

Symptoms

Symptoms of SPG can vary widely among affected individuals, even within the same family. The primary symptom is progressive spasticity in the lower limbs, leading to difficulty walking, muscle weakness, and tightness. Other symptoms may include:

• Increased reflexes, particularly in the legs
• Babinski sign
• Reduced bladder control
• Muscle atrophy
• Decreased vibration sense in the lower limbs

In some cases, additional neurological symptoms may be present, such as epilepsy, intellectual disability, or vision problems.

Diagnosis

Diagnosis of familial autosomal recessive spastic paraplegia is primarily based on clinical examination and the family history. Neurological examinations, magnetic resonance imaging (MRI) of the brain and spinal cord, and genetic testing can help confirm the diagnosis and rule out other conditions with similar symptoms.

Treatment

There is currently no cure for SPG, and treatment focuses on managing symptoms and improving quality of life. Physical therapy is a key component of treatment, helping to maintain mobility and reduce muscle stiffness. Other treatments may include medications to manage spasticity and pain, orthotic devices to support walking, and, in some cases, surgical interventions to correct joint deformities.

Prognosis

The prognosis for individuals with familial autosomal recessive spastic paraplegia varies. While the condition is progressive, the rate of progression can differ significantly among affected individuals. Some may remain ambulatory throughout their lives, while others may require assistive devices or become wheelchair-bound. Early intervention with physical therapy and other treatments can help manage symptoms and maintain mobility.

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