hereditary spastic paraplegia 88

Hereditary Spastic Paraplegia 88 (SPG88) is a rare neurodegenerative disorder characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity [6]. The disorder is marked by delayed motor development, with affected individuals experiencing walking difficulties due to spasticity in the lower limbs [1].

The symptoms of SPG88 typically manifest in the first year of life, and are characterized by a progressive decline in motor function. As the condition advances, individuals may experience increasing weakness and spasticity in their lower limbs, leading to impaired mobility and gait disturbances.

It's worth noting that SPG88 is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition [6]. This means that if one parent has the mutation, each child has a 50% chance of inheriting it.

Overall, Hereditary Spastic Paraplegia 88 is a rare and complex condition that requires careful management and support from healthcare professionals.

Hereditary Spastic Paraplegia (HSP) 88 is a rare genetic disorder that affects the nervous system. Based on the search results, here are some signs and symptoms associated with HSP 88:

• Muscle weakness and wasting: Affected individuals may experience muscle weakness and wasting in the lower limbs, which can lead to difficulties with walking and balance [3].
• Spasticity of the lower limbs: Spasticity, or increased muscle tone, is a common symptom of HSP 88, particularly in the lower limbs. This can cause stiffness and rigidity in the legs [5].
• Hyperreflexia: Individuals with HSP 88 may exhibit hyperreflexia, which is an exaggerated reflex response to stimuli. This can be observed as brisk reflexes in the arms and legs [4].
• Bladder control issues: Some people with HSP 88 may experience bladder control problems, including incontinence or difficulty initiating urination [6].
• Delayed motor development: Children with HSP 88 may experience delayed motor development, which can manifest as difficulties with walking and balance [5].
• Progressive spastic paraplegia: The disorder is slowly progressive, leading to increasing weakness and paralysis of the lower limbs over time [8].

It's essential to note that the symptoms of HSP 88 can vary in severity and progression from person to person. If you or someone you know has been diagnosed with HSP 88, it's crucial to work closely with a healthcare provider to manage the condition and address any related concerns.

References:

[3] - Search result 3: "They may also have muscle wasting (amyotrophy), reduced bladder control, or high arches of the feet (pes cavus )." [4] - Search result 4: "This also results in brisk reflexes, extensor plantar reflexes, muscle weakness, and variable bladder disturbances." [5] - Search result 5: "Affected individuals show delayed motor development with walking difficulties due to spasticity of the lower limbs." [6] - Search result 6: "Pure HSP is characterised primarily by symptoms such as hyperreflexia, hypertonicity or contralateral limb spasticity, bladder incontinence, and tactile sensory..." [8] - Search result 8: "Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature."

Hereditary Spastic Paraplegias (HSP) are a group of neurodegenerative disorders characterized by progressive lower-limb weakness and spasticity. Diagnostic tests for HSP aim to confirm the clinical diagnosis, identify the underlying genetic cause, and rule out other differential diagnoses.

Clinical Diagnosis

The clinical diagnosis of HSP is based on medical and family history, neurological examination, investigations

Hereditary Spastic Paraplegia (HSP) is a rare neurodegenerative disorder characterized by progressive lower extremity weakness and spasticity. While there is no specific cure for HSP, various drug treatments can help manage symptoms.

Medications:

• Muscle relaxants, such as baclofen, are commonly used to treat muscle stiffness and spasms in HSP patients [4].
• Botulinum toxin injections can also be administered intramuscularly to reduce spasticity [4].
• Levodopa is another medication that may be prescribed to help manage symptoms of HSP [3].

Other treatments:

• Physiotherapy, including exercises and physical therapy, can help improve mobility and reduce muscle stiffness in HSP patients [8].
• Botulinum toxin type A injections are also used to treat spasticity in HSP patients [4].

It's essential to note that the effectiveness of these treatments may vary depending on individual cases. Consult a healthcare professional for personalized advice on managing symptoms of HSP.

References: [3] - by P Lallemant-Dudek · 2021 · Cited by 14 [4] - by P Lallemant-Dudek · 2021 · Cited by 14 [8] - by S Gumeni · 2021 · Cited by 20

Hereditary Spastic Paraplegia (HSP) 88, also known as Autosomal Dominant Spastic Paraplegia-88 (ADSPG-88), is a rare genetic disorder. When it comes to differential diagnosis, several conditions need to be ruled out.

Conditions to Consider:

• Multiple Sclerosis: This condition can cause progressive weakness and spasticity in the lower limbs, similar to HSP 88.
• Structural Abnormalities of the Spinal Cord: Conditions such as syringomyelia or spinal cord tumors can also present with symptoms like those seen in HSP 88.
• B12 Deficiency: Vitamin B12 deficiency can cause neurological symptoms including weakness and spasticity in the lower limbs.
• Adrenomyeloneuropathy: This is a rare genetic disorder that affects the adrenal glands, spinal cord, and peripheral nerves, leading to progressive weakness and spasticity.

Other Conditions to Exclude:

• Spastic Diplegia: This condition presents with nearly identical symptoms as HSP 88 and can be treated with physical therapy.
• Acquired conditions: It's essential to rule out acquired conditions that may mimic the symptoms of HSP 88, such as spinal cord injuries or infections.

Genetic Considerations:

• Over 100 loci/genes are implicated in the pathogenesis of HSP, including 83 clinical-genetic forms with the designation spastic paraplegia.
• The genetic heterogeneity of HSP makes differential diagnosis challenging and requires a comprehensive approach.

References:

[3] Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark features such as progressive lower limb weakness and spasticity. [4] To date, more than 100 loci/88 genes are known to be implicated in the pathogenesis of HSP. Of those, 83 clinical-genetic forms have the designation spastic paraplegia. [5] Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential diagnoses.