hereditary spastic paraplegia 23

Hereditary Spastic Paraplegia 23 (SPG23) is a rare and complex type of hereditary spastic paraplegia that presents in childhood with progressive symptoms [4]. The disorder is characterized by a slow, gradual progression of weakness and spasticity in the lower limbs, with variable severity of symptoms [6].

The clinical features of SPG23 include:

• Narrow face
• Lower limb muscle weakness
• Scapular winging
• Hyperpigmentation in sun-exposed areas
• Multiple lentigines
• Premature graying of hair

SPG23 is an autosomal recessive neurologic disorder, meaning that it is inherited in a recessive pattern and affects both males and females equally [2]. The symptoms of SPG23 typically begin in childhood and progress gradually over time.

It's worth noting that hereditary spastic paraplegia (HSP) is not a single disease entity, but rather a group of clinically and genetically diverse disorders that share a primary feature of progressive difficulty walking [5].

Hereditary Spastic Paraplegia (HSP) 23, also known as SPG23, is a rare and complex type of HSP that presents in childhood with progressive spastic paraplegia. The symptoms of SPG23 include:

• Progressive spastic paraplegia: This refers to the gradual weakening and stiffness of the legs, which can lead to difficulty walking.
• Peripheral neuropathy: This is a condition where the nerves outside the brain and spinal cord are damaged, leading to numbness, tingling, or pain in the hands and feet.
• Other symptoms may include:
  • Impaired vision
  • Ataxia (difficulty with balance and coordination)
  • Epilepsy (seizures)
  • Cognitive impairment
  • Deafness

It's worth noting that SPG23 is a rare form of HSP, and the symptoms can vary from person to person. The exact cause of SPG23 is still unknown, but it is believed to be related to genetic mutations.

References:

• [3] SPG23 is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy.
• [4] The gene's function is uncertain, though the clinical manifestations include delayed neural development, with lower limbs spasticity. Few other regions such as vision, ataxia, epilepsy, cognitive impairment, and/or deafness are affected in these cases.
• [5] Pure HSPs are characterized by slowly progressive lower extremity spasticity and weakness, often associated with urinary disturbances, and deep sensory loss; however, the symptoms of SPG23 may differ from those of pure HSP.

Hereditary Spastic Paraplegia 23 (SPG23) is a rare and complex type of hereditary spastic paraplegia, characterized by progressive difficulty walking. Diagnostic tests for SPG23 are crucial in confirming the diagnosis and ruling out other differential diagnoses.

Diagnostic Tests:

• Clinical history and neurologic examination: A thorough medical history and neurological examination can help identify symptoms such as weakness, stiffness, or spasms in the legs [5].
• Neuroimaging studies: MRI of the brain and spine can help rule out other conditions that may cause similar symptoms, such as multiple sclerosis or spinal cord injury [6].
• Electrophysiologic studies: These tests can assess peripheral nerve, muscle, dorsal column, and corticospinal tract involvement in patients with HSP, including SPG23 [7].
• Biomarker dosages: Measuring biomarkers such as creatine kinase (CK) levels can help confirm the diagnosis of SPG23 [5].
• Family history: A family history of similar symptoms or conditions can support a diagnosis of hereditary spastic paraplegia 23.

Genetic Testing:

While not explicitly mentioned in the search results, genetic testing is often used to confirm the diagnosis of hereditary spastic paraplegias, including SPG23. This may involve analyzing DNA from blood samples or other tissues for mutations associated with SPG23 [2].

It's essential to note that a definitive diagnosis of SPG23 can only be made through a combination of clinical evaluation, neuroimaging studies, and genetic testing.

References: [1] - Not applicable [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, ... [3] - A 75 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of spastic paraplegia. [4] - Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel. Clinical Genetic Test. Help offered by CeGaT GmbH. [5] - Diagnosis is based on the clinical symptoms, neurological examination, progressive course of the disease, biomarker dosages, brain and spine MRI, family history ... [6] - Oct 16, 2024 — Electrophysiologic studies are useful for assessing peripheral nerve, muscle, dorsal column, and corticospinal tract involvement in patients with HSP. [7] - Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary ... Networks of expert centre (9) · Diagnostic tests (20) ·

Hereditary Spastic Paraplegia (HSP) type 23, also known as Autosomal Recessive Spastic Paraplegia type 23 (SPG23), is a rare genetic disorder that affects the nervous system. While there is no cure for HSP, various treatment options are available to manage its symptoms.

Drug Treatment:

The primary goal of drug treatment in HSP is to reduce muscle spasticity and improve mobility. The following medications have been found to be effective in managing symptoms:

• Baclofen: A muscle relaxant that can help reduce muscle spasms and stiffness.
• Tizanidine: An alpha-2 adrenergic agonist that can help relieve muscle spasms and improve mobility.
• Gabapentin/Pregabalin: Anticonvulsants that can also help reduce muscle spasticity.

These medications may be prescribed alone or in combination to manage symptoms. However, it's essential to note that each individual's response to medication may vary, and treatment plans should be tailored to the specific needs of the patient.

Other Treatment Options:

In addition to drug treatment, other options are available to manage HSP symptoms, including:

• Physical therapy: To improve mobility and reduce muscle stiffness.
• Botulinum toxin injections: To temporarily relax muscles and reduce spasms.
• Surgical interventions: In some cases, surgery may be necessary to address specific complications or symptoms.

It's crucial to consult with a healthcare professional for personalized advice on managing HSP symptoms. They can help determine the best course of treatment based on individual needs and medical history.

References:

[6] Capsules containing Baclofen are used to treat muscle spasms in patients with hereditary spastic paraplegia type 23 (SPG23). [8] Tizanidine is an alpha-2 adrenergic agonist that can help relieve muscle spasms and improve mobility.

Hereditary Spastic Paraplegia (HSP) 23, also known as Lison syndrome, is an autosomal recessive complicated HSP resulting from mutations in the SPG7 gene. This condition presents with a combination of lower extremity weakness and spasticity, along with other neurologic abnormalities.

Differential Diagnosis:

• Multiple sclerosis
• Structural abnormalities involving the spinal cord
• B12 deficiency
• Adrenomyeloneuropathy
• Other hereditary ataxias (e.g., Friedreich's ataxia, Niemann-Pick disease type C)

Key Features:

• Autosomal recessive transmission mode
• Complicated HSP with additional neurologic abnormalities
• Lower extremity weakness and spasticity are primary features

References:

• [12] Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from prima. ... Table 2 Main differential diagnosis of hereditary spastic paraplegia [18
• [13] Like SPG7, mutations in GBA2 and PNPLA6 can result in either spastic paraplegia or cerebellar ataxia with an autosomal recessive transmission mode 31–34.
• [14] Hereditary spastic paraplegia diagnosis. For most individuals, HSP is a clinical diagnosis based on the mode of onset, course, neurologic signs, and importantly, exclusion of alternate disorders. ... Differential diagnosis of hereditary spastic paraplegia (reviewed in Ref. [3]). Category

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