hereditary spastic paraplegia 87

Hereditary Spastic Paraplegia 87 (SPG87) is a rare neurodegenerative disorder that affects the lower limbs.

Characteristics

• Onset: SPG87 typically begins in infancy or early childhood, with symptoms appearing as early as birth.
• Symptoms: The primary symptom of SPG87 is lower limb spasticity, which can range from mild to severe. This can lead to weakness and stiffness in the legs.
• Progression: The condition progresses slowly over time, with some individuals experiencing a gradual worsening of symptoms.

Key Points

• SPG87 is an autosomal recessive disorder, meaning that it is inherited in a recessive pattern (i.e., a person must inherit two copies of the mutated gene, one from each parent).
• The exact prevalence of SPG87 is unknown, but it is considered to be a rare condition.
• There are no specific treatments available for SPG87, although various management strategies can help alleviate symptoms and improve quality of life.

References

• [1] Autosomal recessive spastic paraplegia-87 (SPG87) is a neurologic disorder characterized by the onset of lower limb spasticity in infancy or early childhood ... (Source: 1)
• A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound ... (Source: 6, 9)

Hereditary Spastic Paraplegia (HSP) is a group of rare genetic disorders that affect the nervous system, leading to progressive muscle stiffness (spasticity) in the legs. The signs and symptoms of HSP can vary depending on the specific subtype, but common features include:

• Progressive muscle stiffness (spasticity): This is the primary symptom of HSP, characterized by increasing stiffness and rigidity in the legs.
• Weakness: Weakness most commonly occurs in the lower limbs, but mild upper limb weakness may also occur [6].
• Poor coordination and balance: Patients with HSP may experience poor coordination and balance, which can increase the risk of falls [6].
• Urinary disturbances: Some individuals with HSP may experience urinary urgency or other disturbances due to nerve damage.
• Sensory changes: Decreased vibration sense and cerebellar signs are common in affected individuals [4].

In some cases, HSP can also be associated with intellectual disability, short stature, and a shy character [7]. The age of onset varies, but most patients lose the ability to walk by 60-70 years of age [5].

It's essential to note that the symptoms of HSP can progress over time, and early diagnosis is crucial for effective management. If you're experiencing any of these symptoms or have concerns about your health, consult a healthcare professional for proper evaluation and guidance.

References: [1] - Not applicable (search results provided context) [2] - Not applicable (search results provided context) [3] - Not applicable (search results provided context) [4] by G Casari · 2018 · Cited by 39 [5] by A Datta — Most patients lost the ability to walk by 60 to 70 years of age. [6] Weakness most commonly occurs in the lower limbs, but mild upper limb weakness may also occur. The upper limbs may also experience poor coordination and ... [7] by TL Giudice · 2014 · Cited by 385 — Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. [8] Jun 25, 2021 — Signs and symptoms of hereditary spastic paraplegias are characterized by progressive muscle stiffness (spasticity) in the legs and ... [9] by JK Fink · 2003 · Cited by 181 — The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking.

Hereditary Spastic Paraplegia (HSP) is a group of neurologic disorders characterized by difficulty walking and progressive muscle weakness. Diagnostic tests for HSP are crucial in confirming the diagnosis and ruling out other conditions.

Clinical Diagnosis The clinical symptoms, neurological examination, and family history play a significant role in diagnosing HSP [3]. A thorough medical history, including the age of onset, progression of symptoms, and any previous episodes of weakness or paralysis, is essential. The physical examination may reveal muscle weakness, spasticity, and reflex changes.

Imaging Studies Brain and spine MRI are often used to rule out other conditions that may cause similar symptoms [9]. These imaging studies can help identify structural abnormalities in the spinal cord, which may be associated with HSP. However, it's essential to note that MRI of the brain and spinal cord is usually normal in patients with HSP.

Molecular Genetic Testing Next-generation sequencing (NGS) has revolutionized the diagnosis of HSP [4]. Gene panels tailored to specific disease categories can help identify the underlying genetic cause of HSP. This testing can be particularly useful when there is a family history of the condition or when other diagnostic tests are inconclusive.

Other Diagnostic Tests In some cases, additional diagnostic tests may be necessary to rule out other conditions that may mimic HSP symptoms [10]. These tests include:

• X-rays of the spine and thorax
• Soft tissue x-rays of the face, head, and neck
• Biliary tract x-ray
• Other x-rays of the digestive system, urinary system, female genital organs, and male genital organs

Genetic Testing Genetic testing is often performed with gene panels tailored to specific disease categories [11]. This testing can help identify the underlying genetic cause of HSP. However, it's essential to note that genetic testing should be performed in conjunction with other diagnostic tests and under the guidance of a qualified healthcare professional.

In summary, the diagnosis of Hereditary Spastic Paraplegia (HSP) involves a combination of clinical symptoms, neurological examination, imaging studies, molecular genetic testing, and exclusion of alternative differential diagnoses.

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs, with no cure available. However, various drug treatments can help manage symptoms.

Medications for HSP:

• Muscle relaxants such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed to reduce spasticity [8].
• Botulinum toxin injections or an implanted pump can also be used to alleviate muscle stiffness and spasms [7].

Other Therapeutic Options:

• Physical therapy is often recommended to maintain mobility and prevent further decline.
• Oral antispastic drugs, such as Baclofen, Progabide, and Dalfampridine, may provide some relief from spasticity symptoms.

Experimental Treatments:

• Research has explored the use of Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and other compounds to treat HSP, with Gabapentin and Progabide showing moderate efficacy [5].

Current Limitations:

• Unfortunately, there are no treatments that can prevent, slow, or reverse the progression of HSP. Treatments like muscle relaxers may sometimes relieve spasticity, but they do not address the underlying condition [6].

It's essential to note that each individual with HSP may respond differently to these treatments, and a personalized approach is often necessary.

References: [1] Mackay-Sim A. Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery. Brain Sci. 2021 Mar 22. [5] by J Arnold · 2024 [6] Jul 19, 2024 [7] by M Bellofatto · 2019 · Cited by 74 [8] Oral medications such as Baclofen, Tizanidine, Gabapentin/Pregabalin are prescribed as muscle relaxants to reduce spasticity.

Hereditary Spastic Paraplegia (HSP) is a complex disorder that can be challenging to diagnose accurately. The differential diagnosis for HSP involves ruling out other neurologic disorders that may present with similar symptoms.

According to the medical literature, the differential diagnosis of HSP includes:

• Multiple sclerosis [2]
• Structural abnormalities involving the spinal cord [3]
• B12 deficiency [3]
• Adrenomyeloneuropathy [3]
• Other hereditary spastic paraplegias (HSPs) [4]

In addition to these conditions, complicated HSP is distinguished by the presence of uncomplicated symptoms, in addition to many others, including: * Ataxia * Seizures * Intellectual disability [7]

A comprehensive diagnosis of HSP requires a thorough clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of alternative differential diagnoses [8].

Symptoms of HSP typically include lower limb-predominant spasticity and weakness leading to gait abnormalities. Sensory deficits and urinary symptoms may also be present [9].

References: [1] Not applicable [2] 2. Jul 12, 2017 — [3] The differential diagnosis includes multiple sclerosis, structural abnormalities involving the spinal cord, B12 deficiency, adrenomyeloneuropathy and other ... [4] by JK Fink · 2013 · Cited by 546 — “Hereditary spastic paraplegia” (HSP) is a clinical diagnostic designation for those neurologic syndromes a) in which bilateral lower extremity weakness and ... [5] Not applicable [6] Not applicable [7] Jul 12, 2017 — HSP syndromes are classified as “complicated” when leg weakness and tightness (spasticity) are accompanied by other neurologic disturbance such ... [8] by A Datta — Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential ... [9] by FF da Graça · 2019 · Cited by 69 — Patients typically present with lower limb-predominant spasticity and weakness leading to gait abnormalities. Sensory deficits and urinary ...