hereditary spastic paraplegia 81

Hereditary Spastic Paraplegia 81 (SPG81) is a rare genetic neurological disorder characterized by delayed motor development, progressive spasticity, and other neurologic impairments.

Key Features:

• Onset in Infancy: SPG81 typically begins to manifest in infancy.
• Delayed Motor Development: Affected individuals experience delayed motor development, which can include difficulties with walking, balance, and coordination.
• Progressive Spasticity: The disorder is characterized by progressive spasticity, or stiffness, of the lower limbs.
• Other Neurologic Impairments: Some patients may also experience other neurologic impairments, including impaired intellectual development, speech delay, bifid uvula, microcephaly, seizures, and variable ocular anomalies.

References:

• [1] SPG81 is an autosomal recessive neurologic disorder with onset in infancy. Affected individuals have delayed motor development, progressive spasticity, and other neurologic impairment, including impaired intellectual development and speech delay.
• [10] Spastic paraplegia-81 (SPG81) is an autosomal recessive neurologic disorder with onset in infancy. Affected individuals have delayed motor development, progressive spasticity, and other neurologic impairment, including impaired intellectual development and speech delay. Some patients may have additional features, including bifid uvula, microcephaly, seizures, and variable ocular anomalies.
• [6] Spastic paraplegia-81 (SPG81) is an autosomal recessive neurologic disorder with onset in infancy. Affected individuals have delayed motor development, progressive spasticity, and other neurologic impairments that may include impaired intellectual development and speech delay.

Note: The above description is based on the information provided in the search results within the context block.

Hereditary Spastic Paraplegia (HSP) is a group of inherited disorders that primarily affect the nervous system, leading to weakness and stiffness in the legs. The signs and symptoms of HSP can vary widely among individuals, but here are some common ones:

• Progressive spasticity: This refers to increasing muscle stiffness and spasms in the lower limbs, which can lead to difficulty walking or standing.
• Weakness: As the disease progresses, people with HSP may experience weakness in their legs, making it harder to walk or stand.
• Difficulty with balance: Many individuals with HSP have trouble maintaining their balance, increasing the risk of falls.
• Muscle wasting (amyotrophy): In some cases, muscle wasting can occur, particularly in the lower limbs.
• Reduced bladder control: Some people with HSP may experience urinary incontinence or other bladder problems.
• High arches of the feet (pes cavus): This is a common feature in many forms of HSP.

According to [3], most patients lose the ability to walk by 60-70 years of age. In addition, autosomal recessive pure forms are almost always early onset, with symptoms appearing in childhood or adolescence.

The signs and symptoms of HSP can be quite varied, but they often include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking [4]. Some individuals may also experience muscle wasting (amyotrophy), reduced bladder control, or high arches of the feet (pes cavus) [5].

It's essential to note that HSP can be classified into different types based on its severity and symptoms. The most common types are pure HSP, complicated HSP, and autosomal dominant HSP [9].

Hereditary Spastic Paraplegia (HSP) 81, also known as SPG13, is a rare genetic disorder that affects the nervous system. Diagnostic tests for HSP 81 are crucial for accurate diagnosis and management of the condition.

Diagnostic Tests:

• Clinical Genetic Test: A clinical genetic test offered by Greenwood Genetic Center Diagnostic Laboratories can help diagnose HSP 81 (1). This test involves analyzing DNA samples to identify specific genetic mutations associated with the condition.
• Neuroimaging: Magnetic Resonance Imaging (MRI) is essential in patients with spastic paraparesis, including those with HSP 81, to rule out usual causes of paraplegia such as compressive, inflammatory, or vascular lesions (5).
• Electrophysiological studies: These studies can help identify motor axonopathy affecting upper and lower limbs, which is consistent with HSP 81 (6). Single SPG39-patient showed atrophy of the spinal cord, indicating a possible diagnostic marker.
• Genetic testing: Genetic testing is often performed with gene panels tailored to specific disease categories. An accurate clinical diagnosis is necessary for targeted genetic testing (8).
• Molecular diagnosis: Molecular diagnosis is challenging due to the presence of 81 genetic forms of HSP identified, and new HSP-related genes being identified (9).

Additional Diagnostic Tools:

• Ashworth Scale: The Ashworth Scale is a commonly administered tool for objective measures of spasticity, which can be helpful in assessing the severity of symptoms (4).
• Family history and examination: A positive family history or examination facilitates direct diagnostic genetic testing (7).

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 strength in the affected limbs [7].
• Rehabilitation therapy, such as occupational and speech therapy, may also be beneficial for individuals with HSP [5].

Experimental treatments:

• A phase 1 trial of a personalized AAV9-based gene therapy showed promise in treating hereditary spastic paraplegia type 50, but more research is needed [11].
• Other experimental treatments such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA) have shown moderate efficacy in some studies [6].

Important notes:

• Treatment options may vary depending on the individual's specific condition and symptoms.
• Medications can have side effects, such as drowsiness, dizziness, weakness, confusion, and upset stomach [10].
• 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 ... [6] - by J Arnold · 2024 — Only Gabapentin and progabide showed moderate efficacy. Other drugs such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and ... [7] - Jul 19, 2024 — There isn't a cure available for hereditary spastic paraplegia, but treatment can help manage symptoms. Physical therapy can help maintain mobility and strength in the affected limbs. [8] - Result: (no data available) [10] - Possible side effects for these drugs include drowsiness, dizziness, weakness, confusion and upset stomach. For information regarding drugs, contraindications and side effects, consult your doctor or pharmacist. Note: In case of emergency/ overdose the local poison control center can be reached at 1 (800) 222-1222. [11] - In a phase 1 trial in a single patient with hereditary spastic paraplegia type 50, a personalized AAV9-based gene therapy was developed within 3 years from diagnosis and was well tolerated ...

Differential Diagnosis of Hereditary Spastic Paraplegia

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by progressive lower extremity weakness and spasticity. When considering the differential diagnosis of HSP, it's essential to note that the condition can be distinguished from other genetic diseases associated with spasticity.

Key Differential Diagnoses:

• Multiple sclerosis
• Structural abnormalities involving the spinal cord
• B12 deficiency
• Adrenomyeloneuropathy (also a differential diagnosis in women)
• Other conditions such as Friedreich’s ataxia, Niemann–Pick disease type C, and Cerebrotendinous xanthomatosis

Clinical Features to Consider:

When differentiating HSP from other conditions, the following clinical features should be taken into account:

• Presence of uncomplicated symptoms (such as lower-extremity weakness and spasticity)
• Additional symptoms such as ataxia, seizures, intellectual disability
• Imaging abnormalities and molecular genetic testing results

Genetic Considerations:

The differential diagnosis of HSP also involves considering the genetic basis of the condition. Mutations in genes such as GBA2 and PNPLA6 can result in either spastic paraplegia or cerebellar ataxia with an autosomal recessive transmission mode.

References:

• [1] (Context 11) Hereditary spastic paraplegia is not a single disease entity; it 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.
• [6] Complicated HSP is distinguished by the presence of uncomplicated symptoms, in addition to many others, including ataxia, seizures, intellectual disability.
• [9] X-Linked adrenomyeloneuropathy is also a differential diagnosis even in women (about 20% of female carriers develop spastic paraparesis in adulthood).
• [13] Like SPG7, mutations in GBA2 and PNPLA6 can result in either spastic paraplegia or cerebellar ataxia with an autosomal recessive transmission mode.