hereditary spastic paraplegia 74

Hereditary Spastic Paraplegia (HSP) type 74, also known as SPG74, is a rare genetic disorder characterized by childhood onset of mild to moderate spastic paraparesis. This condition manifests with gait impairment that very slowly progresses into late adulthood, accompanied by hyperactive patellar reflex and bilateral extensor plantar response.

The symptoms of HSP type 74 typically include:

• Slowly progressive lower limb spasticity
• Optic atrophy (atrophy of the optic nerve)
• Peripheral neuropathy (damage to the peripheral nerves)

These symptoms are often associated with a genetic mutation in the IBA57 gene, which is responsible for Fe/S protein assembly. This mutation can lead to the development of HSP type 74.

It's worth noting that HSP type 74 is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The symptoms of HSP type 74 are typically mild in childhood but can progress slowly into adulthood.

References:

• [1] - Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic ...
• [5] - Spastic paraplegia-74 (SPG74) is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
• [10] - Spastic paraplegia-74 (SPG74) is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
• [15] - Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic ...

Hereditary Spastic Paraplegia (HSP) 74, also known as Autosomal Recessive Spastic Paraplegia Type 74, is a rare genetic disorder that affects the nervous system. The signs and symptoms of this condition can vary from person to person, but here are some common ones:

• Progressive muscle stiffness (spasticity): This is one of the main symptoms of HSP 74, where the muscles in the legs become stiff and rigid.
• Difficulty walking: As the spasticity progresses, it can become increasingly difficult to walk, with patients experiencing gait impairment.
• Hyperactive reflexes: The reflexes in the arms may be hyperactive, meaning they are more sensitive than normal.
• Extensor plantar response: This is a sign where the foot responds by extending when the sole is stroked.
• Reduced or absent ankle reflexes: In some cases, the ankle reflexes may be reduced or absent.
• Lower limb atrophy: The muscles in the lower limbs may become wasted due to lack of use.
• Distal sensory loss: Some patients may experience a decrease in sensation in their toes.

It's worth noting that these symptoms can progress slowly over time, and some people may not experience all of them. Additionally, the severity and progression of the symptoms can vary significantly from person to person.

References:

• [1] Symptoms:May start to appear as a Child.
• [2] by JK Fink · 2013 · Cited by 546 — Vibration sensation in the toes is frequently mildly impaired.
• [7] Symptoms include gait impairment, hyperactive patellar reflex, extensor plantar response, reduced or absent ankle reflexes, lower limb atrophy, distal sensory ...
• [14] Symptoms and signs of hereditary spastic paraplegia include spastic leg paresis, with progressive gait difficulty, hyperreflexia, clonus, and extensor plantar responses.

Hereditary Spastic Paraplegia (HSP) 74, also known as Autosomal Recessive Spastic Paraplegia Type 74 (ARSPG74), is a rare genetic disorder characterized by slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy. Diagnostic tests for HSP 74 are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Approaches:

• Clinical History and Neurological Examination: A thorough clinical history and neurological examination are essential in identifying symptoms consistent with HSP 74 (Citations [7], [8]). This includes assessing muscle strength, tone, and reflexes, as well as evaluating optic nerve function.
• Investigations and Neuroimaging: Various investigations and neuroimaging studies may be performed to rule out other conditions that can present with similar symptoms. These include:
  • Magnetic Resonance Imaging (MRI) of the brain and spinal cord
  • Electromyography (EMG)
  • Nerve Conduction Studies (NCS)
  • Optical Coherence Tomography (OCT) for optic nerve evaluation
• Molecular Genetic Testing: Molecular genetic testing is a crucial diagnostic tool for HSP 74. This involves analyzing genes associated with the condition, such as SPG74, to confirm the diagnosis (Citations [2], [6]). A 75-gene panel that includes assessment of non-coding variants may be ideal for patients with a clinical suspicion of spastic paraplegia (Citation [1]).
• Exclusion of Alternative Differential Diagnoses: Diagnosis is by clinical history, neurologic examination, investigations, neuroimaging, molecular genetic testing, and exclusion of the alternative differential diagnoses (Citation [7]).

Diagnostic Criteria:

The diagnostic criteria for HSP 74 include:

• Onset of slowly progressive lower limb spasticity
• Optic atrophy
• Peripheral neuropathy in the first decade

These symptoms are often accompanied by other clinical features, such as muscle weakness and tightness in the legs (Citation [15]).

Genetic Testing:

Genetic testing for HSP 74 involves analyzing genes associated with the condition. This includes:

• SPG74 gene
• Other genes associated with autosomal recessive spastic paraplegia

A comprehensive genetic test, such as a 75-gene panel, may be necessary to confirm the diagnosis (Citation [2]).

In conclusion, diagnostic tests for HSP 74 involve a combination of clinical history and neurological examination, investigations and neuroimaging studies, molecular genetic testing, and exclusion of alternative differential diagnoses. Genetic testing is crucial in confirming the diagnosis and ruling out other conditions.

Hereditary Spastic Paraplegia (HSP) is a group of genetic conditions that cause muscle weakness and tightness in the legs, which can progress over time. While there isn't a cure available for HSP, various drug treatments can help manage symptoms.

Medications Used to Treat HSP:

• Muscle relaxants: These medications can help reduce muscle stiffness and spasms.
• Botulinum toxin injections: Injecting botulinum toxin into affected muscles can help reduce spasticity and improve mobility.
• Baclofen: This medication is often used to treat muscle stiffness and spasms in people with HSP.

Other Potential Treatments:

• Gabapentin: Some studies have shown moderate efficacy of gabapentin in reducing symptoms of HSP.
• Progabide: Another study found that progabide showed moderate efficacy in treating HSP.
• Rapamycin, N-Acetyl Cysteine, Guanabenz, and other drugs have also been explored as potential treatments for HSP.

Important Considerations:

• Possible side effects of these medications include drowsiness, dizziness, weakness, confusion, and upset stomach. It's essential to consult a doctor or pharmacist for more information regarding drug contraindications and side effects.
• In case of emergency or overdose, the local poison control center can be reached at 1 (800) 222-1222.

References:

• [5] 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 HSP, but various drug treatments can help manage symptoms.
• [8] Only Gabapentin and progabide showed moderate efficacy. Other drugs such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and ...
• [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.

Please note that the effectiveness of these treatments may vary depending on individual cases, and it's essential to consult a healthcare professional for personalized advice.

Hereditary Spastic Paraplegia (HSP): A Rare Neurodegenerative Disorder

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder characterized by progressive weakness and stiffness in the lower extremities. The condition is caused by genetic mutations that affect the nervous system, leading to degeneration of motor neurons and subsequent muscle weakness.

Clinical Manifestations

The predominant clinical manifestations of HSP include:

• Lower-extremity weakness and spasticity [1]
• Progressive gait disturbance
• Muscle stiffness and spasms

Differential Diagnosis

HSP can be challenging to diagnose, as it shares similar symptoms with other neurological disorders. The differential diagnosis includes:

• Spastic diplegia: a condition characterized by progressive muscle weakness and stiffness in the lower extremities [5]
• X-linked adrenomyeloneuropathy: a rare genetic disorder that affects the nervous system and can cause spastic paraparesis in women [7]
• Acquired myelopathies: conditions caused by damage to the spinal cord, which can mimic HSP symptoms [8]

Diagnostic Approach

Diagnosis of HSP is typically made through a combination of clinical history, neurologic examination, investigations (such as MRI and EMG), molecular genetic testing, and exclusion of alternative differential diagnoses. A thorough evaluation by a neurologist or other healthcare professional is essential to accurately diagnose and manage the condition.

References

• [1] Meyyazhagan et al. (2022) - Hereditary spastic paraplegia: a rare neurodegenerative disorder.
• [3] Giudice et al. (2014) - Hereditary spastic paraplegia: a group of clinically and genetically heterogeneous neurological disorders.
• [5] Datta et al. - Differential diagnosis of HSP: excluding spastic diplegia and other conditions.
• [7] da Graça et al. (2019) - X-linked adrenomyeloneuropathy: a differential diagnosis for HSP in women.

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