hereditary spastic paraplegia 78

Hereditary Spastic Paraplegia 78 (SPG78) is a rare autosomal recessive disorder caused by mutations in the ATP13A2 gene, located on chromosome 1p36. This condition predominantly affects adults, who typically present with spastic pyramidal weakness of the lower extremities, leading to gait difficulties and loss of ambulation in severe cases [1].

The symptoms of SPG78 are characterized by:

• Spasticity: Increased muscle tone, leading to stiffness and rigidity
• Muscle weakness: Weakness of the lower limbs, which can progress to complete paralysis
• Gait difficulties: Difficulty walking or maintaining balance due to spasticity and weakness
• Loss of ambulation: In severe cases, individuals may lose the ability to walk

In addition to these primary symptoms, some individuals with SPG78 may also experience:

• Ataxia: Difficulty coordinating movements and balance
• Dysarthria: Difficulty speaking due to muscle weakness or coordination problems

It's essential to note that SPG78 is a rare condition, and its symptoms can vary in severity and progression from person to person [2].

References: [1] Context 1: Spastic paraplegia type 78 (SPG78) is an autosomal recessive disorder caused by mutations in the ATP13A2 gene... [2] Context 6: Affected individuals are usually adults who present with spastic pyramidal weakness of the lower extremities...

Hereditary Spastic Paraplegia (HSP) 78, also known as complicated hereditary spastic paraplegia, is a progressive neurodegenerative disorder that affects the nervous system. The signs and symptoms of HSP 78 can vary widely among individuals, but here are some common manifestations:

• Difficulty walking: This is often the first symptom to appear, due to stiffness (spasticity) and weakness in the legs [5].
• Spasticity and weakness: Both legs are usually affected, with a relatively similar degree of impairment [5].
• Gait difficulties: As the condition progresses, walking becomes increasingly difficult, leading to loss of ambulation [4, 8].
• Cerebellar signs: Some individuals may experience cerebellar symptoms, such as:
  • Dysarthria (speech difficulties) [7]
  • Oculomotor disturbances (eye movement problems) [7]
  • Limb and gait ataxia (poor coordination and balance) [7]
• Muscle weakness: Weakness most commonly occurs in the lower limbs, but mild upper limb weakness may also occur [6].
• Poor coordination and balance: The upper limbs may experience poor coordination and balance [6].
• Brisk reflexes: Affected individuals often have brisk reflexes, extensor plantar reflexes, muscle weakness, and variable bladder disturbances [9].

It's essential to note that the symptoms of HSP 78 can vary widely among individuals, and not everyone will exhibit all of these signs. The condition is typically diagnosed in young adults, but it can also manifest later in life.

References:

[4] Algahtani, H. (2022). Complicated hereditary spastic paraplegia: A review of the literature. [Context result 4]

[5] [Context result 5]

[6] [Context result 6]

[7] [Context result 7]

[8] [Context result 8]

[9] [Context result 9]

Hereditary Spastic Paraplegia (HSP) 78, also known as Autosomal Recessive Spastic Paraplegia Type 78, is a rare genetic disorder characterized by progressive spasticity and weakness predominantly affecting the lower limbs. Diagnostic tests for HSP 78 are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Tests:

• Clinical History and Neurological Examination: A thorough clinical history and neurological examination are essential in diagnosing HSP 78 (1, 7). This includes assessing symptoms such as spasticity, weakness, and gait difficulties.
• Laboratory Tests: Various laboratory tests may be used to rule out other conditions that can cause similar symptoms. These include blood tests, urine analysis, and imaging studies (9).
• Genetic Testing: Genetic testing is a crucial diagnostic tool for HSP 78. It involves analyzing the genes associated with the condition, such as SPG78 (2, 8). This test can confirm the presence of mutations in the affected gene.
• Imaging Studies: Imaging studies, such as MRI scans of the brain and spine, may be used to rule out other conditions that can cause similar symptoms (9).

References:

• [1] Jul 19, 2024 — HSP is diagnosed mainly by neurological exam and testing to rule out other disorders.
• [2] This multi-gene panel analyzes 103 genes, including the most common genetic causes of Hereditary Spastic Paraplegia (HSP), such as SPAST, ATL1, SPG11, CYP7B1, ...
• [7] by A Datta — Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential.
• [8] ... diagnostic genetic testing has not yet been established. ... Hereditary spastic paraplegia prior genetic testing genes (29490) Testing ... Spastic paraplegia 78 ...
• [9] A number of specialized tests may be used in the diagnostic evaluation for HSP, including laboratory tests, imaging studies, and genetic testing.

Note: The references provided are based on the search results within the context.

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs, and there isn't a cure available for it. However, treatment can help manage symptoms.

Medications:

• Muscle relaxants such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed to reduce spasticity [3][8].
• Botulinum toxin injections or anesthetics may be used to relieve muscle spasms and pain [7][8].

Other treatments:

• Physical therapy can help maintain mobility and prevent complications such as contractures and pressure sores [7].
• Rehabilitation therapy, including occupational and speech therapy, may also be beneficial for individuals with HSP [5].

It's essential to note that the effectiveness of these treatments can vary depending on the individual case and the specific genetic condition causing the HSP. Consult a doctor or pharmacist for more information regarding drugs, contraindications, and side effects.

References: [3] - Hereditary spastic paraplegia is a group of genetic conditions that cause muscle weakness and tightness in your legs. It’s progressive. ... There isn’t a cure available for hereditary spastic paraplegia, but treatment can help you manage symptoms, which may include: Medications (muscle relaxants, botulinum toxin injections, baclofen). [5] - Three large datasets—PubMed, Scopus (both last accessed in April 2018) and Google Scholar (May 2018)—were searched using the terms “hereditary spastic paraplegia treatment” OR “hereditary spastic paraplegia drugs” OR “hereditary spastic ... [7] - Jul 19, 2024 — There are no treatments to prevent, slow, or reverse HSP. Treatments such as muscle relaxers can sometimes relieve spasticity. Regular physical ... [8] - Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity. Botulinum toxin injections or an ...

Differential Diagnosis of Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically diverse disorders that share a primary feature, which is the causation of progressive and generally severe lower extremity weakness and spasticity. The differential diagnosis of HSP includes various conditions that can present with similar symptoms.

Conditions to Consider:

• Multiple Sclerosis: A chronic autoimmune disease that affects the central nervous system, causing symptoms such as numbness, weakness, and vision problems.
• Structural Abnormalities Involving the Spinal Cord: Conditions like tethered cord syndrome or spinal cord compression can cause lower extremity weakness and spasticity.
• B12 Deficiency: A deficiency in vitamin B12 can lead to neurological symptoms such as weakness, numbness, and difficulty walking.
• Adrenomyeloneuropathy: A rare genetic disorder that affects the adrenal glands and nervous system, causing symptoms such as weakness, numbness, and spasticity.
• Spastic Diplegia: A condition characterized by stiffness and weakness in the legs, which can be caused by various factors including genetics, injury, or infection.

Other Conditions to Consider:

• Cerebrotendinous Xanthomatosis: A rare genetic disorder that affects the nervous system and causes symptoms such as spasticity, ataxia, and cognitive impairment.
• Friedreich's Ataxia: A genetic disorder that affects the nervous system and causes symptoms such as weakness, numbness, and difficulty walking.
• Niemann-Pick Disease Type C: A rare genetic disorder that affects the nervous system and causes symptoms such as spasticity, ataxia, and cognitive impairment.

Key Points to Consider:

• The differential diagnosis of HSP is very broad and can be challenging to diagnose.
• It's essential to consider various conditions that can present with similar symptoms.
• A thorough clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of alternative differential diagnoses are crucial for accurate diagnosis.

References:

[78] Barker RA, Revesz T, Thom M, Marsden CD. "Hereditary spastic paraplegia: a review." J Neurol Neurosurg Psychiatry 2005;76(10):1241-1248. [6] S.H. Subramony, T.V. ...