hereditary spastic paraplegia 26

Hereditary Spastic Paraplegia 26 (SPG26) is a rare and complex form of hereditary spastic paraplegia, which is a group of inherited disorders that cause weakness and stiffness in the leg muscles.

Characteristics:

• Age of onset: SPG26 typically begins in the first two decades of life, with symptoms appearing between childhood and adolescence (ages 2-19).
• Progressive spastic paraplegia: The condition is characterized by a slow, gradual progression of weakness and stiffness in the lower limbs.
• Additional features:
  • Mild to moderate cognitive impairment and developmental delay
  • Cerebellar ataxia (problems with coordination and balance)
  • Dysarthria (speech difficulties)
  • Peripheral neuropathy (nerve damage affecting the arms and legs)

Genetic basis: SPG26 is caused by mutations in the B4GALNT1 gene on chromosome 12q13.

Prevalence: Hereditary spastic paraplegia, including SPG26, affects about 1 to 10 of 100,000 people worldwide.

References:

• [2] describes SPG26 as an autosomal recessive form of complicated spastic paraplegia.
• [3], [6], and [13] all mention SPG26 as a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay.
• [4] provides additional information on the genetic basis

Hereditary Spastic Paraplegia 26 (SPG26) is a rare and complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy.

Common Signs and Symptoms:

• Progressive spasticity and weakness in the legs
• Mild to moderate cognitive impairment and developmental delay
• Cerebellar ataxia (difficulty with coordination and balance)
• Dysarthria (speech difficulties)
• Peripheral neuropathy (nerve damage affecting sensation and movement)

Additional Features:

• Intellectual disability
• Extrapyramidal signs (movement disorders such as dystonia or chorea)
• Cortical atrophy (shrinkage of the outer layer of the brain)

These symptoms typically begin in childhood or adolescence, with most patients losing the ability to walk by 60-70 years of age. The disorder is slowly progressive, and its clinical features are well-documented in medical literature [2][6][12].

References:

[1] Boukhris et al., (2013) - Summary of clinical features [2] Context result 2 - Clinical resource with information about Hereditary spastic paraplegia 26 and its clinical features [6] Context result 6 - Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. [12] Context result 12 - Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence...

Hereditary Spastic Paraplegia (HSP) 26, also known as Autosomal Recessive Spastic Paraplegia Type 26 (SPG26), is a rare and complex genetic disorder. Diagnostic tests for HSP 26 are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Tests:

• Genetic Testing: Genetic testing is the primary diagnostic tool for HSP 26. It involves analyzing DNA samples from affected individuals to identify mutations in the B4GALNT1 gene, which is associated with this condition [2]. This test can be performed using various techniques, including Next-Generation Sequencing (NGS) and Sanger sequencing.
• Clinical Evaluation: A thorough clinical evaluation by a neurologist or geneticist is essential to diagnose HSP 26. This includes a detailed medical history, physical examination, and neurological assessment [13].
• Imaging Studies: Imaging studies such as MRI scans of the brain and spine may be ordered to rule out other conditions that can cause similar symptoms [9].

Other Diagnostic Tests:

• Cerebrospinal Fluid Analysis: In some cases, cerebrospinal fluid analysis may be performed to rule out other neurological disorders.
• Electrophysiological Studies: Electrophysiological studies such as electromyography (EMG) and nerve conduction studies (NCS) may be ordered to assess muscle and nerve function.

References:

[2] Clinical resource with information about Hereditary spastic paraplegia 26 and its clinical features, B4GALNT1, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB.

[9] Treating hereditary spastic paraplegia requires a multidisciplinary approach, including MRI scans of the brain and spine and cerebrospinal fluid analysis. In some cases, genetic testing may also be needed.

[13] Hereditary spastic paraplegia is a group of genetic conditions that cause muscle weakness and tightness in your legs. It’s progressive. Locations: Abu Dhabi ... neurological exam and testing to diagnose hereditary spastic paraplegia. During the exams, your provider will learn more about your symptoms, medical history and family medical ...

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Differential Diagnosis of Hereditary Spastic Paraplegia (HSP)

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. When diagnosing HSP, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• Multiple Sclerosis: A chronic autoimmune disease that affects the central nervous system, causing a wide range of neurological symptoms.
• Structural Abnormalities Involving the Spinal Cord: Conditions such as syringomyelia, spinal cord tumors, or trauma can cause progressive weakness and spasticity in the lower extremities.
• B12 Deficiency: A deficiency in vitamin B12 can lead to neurological symptoms, including weakness, numbness, and spasticity in the legs.
• Adrenomyeloneuropathy: A rare genetic disorder that affects the adrenal glands and spinal cord, causing progressive weakness and spasticity in the lower extremities.

Other Conditions to Consider:

• Cerebral Palsy: A group of neurological disorders that affect movement, balance, and coordination.
• Spinal Muscular Atrophy: A genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement.
• Amyotrophic Lateral Sclerosis (ALS): A progressive neurodegenerative disease that affects motor neurons.

Key Points to Consider in Differential Diagnosis:

• The presence of other neurological symptoms, such as cognitive impairment, seizures, or vision problems.
• The progression and severity of lower extremity weakness and spasticity.
• Family history of similar conditions.
• Results from imaging studies, such as MRI or CT scans.

References:

• [3] Feb 11, 2021 — The predominant signs and symptoms of hereditary spastic paraplegia (HSP) are lower-extremity weakness and spasticity.
• [10] The differential diagnosis includes the following: Structural abnormalities involving the brain or spinal cord ...
• [11] Hereditary spastic paraplegia (HSP) 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.
• [12] Keywords: Hereditary spastic paraplegia, Axonal degeneration, Pure HSP, Complex HSP with cerebellar ataxia, Thin corpus callosum.