hereditary spastic paraplegia 42

Hereditary Spastic Paraplegia Type 42 (HSP42) is a rare genetic disorder that affects the nervous system, causing progressive muscle weakness and stiffness in the legs.

Key Characteristics:

• Slowly Progressive Spasticity: HSP42 is characterized by slowly progressive spasticity of the lower extremities, which means that the muscles in the legs become stiff and weak over time.
• Age of Onset: The age of onset for HSP42 can range from childhood to adulthood.
• Symptoms:
  • Spastic gait (difficulty walking)
  • Increased tendon reflexes in lower limbs
  • Extensor plantar response (a reflex that causes the foot to extend when the sole is stroked)
  • Weakness and atrophy of lower limb muscles
  • In rare cases, pes cavus (high arches) may also be present.

Genetic Cause: HSP42 is caused by a heterozygous mutation in the SLC33A1 gene [4].

Progression: The symptoms of HSP42 typically progress slowly over time, with early stages often involving mild difficulty walking and stiffness. As the disease advances, these symptoms can worsen significantly.

It's essential to note that HSP42 is a rare condition, and more research is needed to fully understand its characteristics and progression. If you or someone you know has been diagnosed with HSP42, it's crucial to consult with a healthcare professional for personalized guidance and support.

Hereditary spastic paraplegia (HSP) type 42, also known as autosomal dominant spastic paraplegia type 42, is a rare inherited disorder that affects the muscles in the legs. The main signs and symptoms of this condition include:

• Spastic gait: A slow and stiff walk due to muscle stiffness in the legs.
• Increased tendon reflexes: Exaggerated reflexes in the lower limbs, which can be felt by tapping the knee or ankle with a reflex hammer.
• Extensor plantar response: A reflexive movement of the foot that involves extending the toes when the sole of the foot is stimulated.
• Weakness and atrophy of the lower limb muscles: Gradual weakening and wasting away of the muscles in the legs, which can lead to difficulty walking or standing.

These symptoms typically progress

Hereditary Spastic Paraplegias (HSP) are a group of neurological disorders characterized by progressive weakness and stiffness in the legs. Diagnostic tests for HSP can help identify the underlying genetic cause of the condition.

Diagnostic Tests:

• Genetic Testing: Genetic testing is a crucial diagnostic tool for HSP. It involves analyzing DNA samples from affected individuals to identify mutations in genes associated with HSP (1, 11). A 75 gene panel that includes assessment of non-coding variants can be ideal for patients with a clinical suspicion of spastic paraplegia (3).
• Imaging Studies: Imaging studies such as MRI scans of the brain and spine may reveal possible hypoplasia of the corpus callosum in some patients with complicated HSP (6). Thinning of the spinal cord can also be observed on MRI scans.
• Cerebrospinal Fluid Analysis: Cerebrospinal fluid analysis may be performed to rule out other conditions that may present with similar symptoms (7).
• Neuropathological Studies: Neuropathological studies, including examination of brain and spinal cord tissue, can provide valuable information for diagnosis (13).

Other Diagnostic Tests:

• NextGen Sequencing Test: This test is used to identify variants within genes known to be associated with HSP (2).
• Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel: This panel is a clinical genetic test that helps in diagnosing HSP and ruling out other conditions (4).

References:

1. Nagarajan E, Bollu PC. Hereditary spastic paraplegia. Neurol India 2020;68(5):931-938.
2. Invitae Hereditary Spastic Paraplegia Comprehensive Panel. Invitae. https://www.invitae.com/test/gene-panel/invitae-hereditary-spastic-paraplegia-comprehensive-panel/
3. A 75 gene panel that includes assessment of non-coding variants can be ideal for patients with a clinical suspicion of spastic paraplegia.
4. MRI scans of the brain and spine may reveal possible hypoplasia of the corpus callosum in some patients with complicated HSP.
5. Cerebrospinal fluid analysis may be performed to rule out other conditions that may present with similar symptoms.
6. A clinical diagnosis of HSP is based on medical and family history, neurological and neuropsychological evaluations, neuropathological studies, other ancillary testing and exclusion of metabolic ...

Hereditary Spastic Paraplegia (HSP) type 42, also known as Autosomal Dominant Spastic Paraplegia Type 42, is a rare genetic disorder that affects the nervous system. While there is no cure for HSP type 42, various drug treatments can help manage its symptoms.

Medications to Reduce Muscle Spasticity

• Baclofen: Capsules comprising tizanidine and baclofen are given orally as antispasmodics in HSP conditions [4]. Baclofen is a muscle relaxant that can help reduce muscle spasticity and improve mobility.
• Tizanidine: This medication is also used to treat muscle spasms and stiffness associated with HSP type 42 [5].
• Gabapentin/Pregabalin: These oral medications are prescribed as muscle relaxants to reduce spasticity and alleviate symptoms [8].

Other Therapeutic Options

• Botulinum toxin injections: This treatment can help reduce muscle spasticity by temporarily paralyzing the affected muscles [7, 9].
• Physical therapy and exercise: Regular physical activity can help maintain mobility and muscle strength, improve range of motion and endurance, reduce fatigue, and prevent cramps and spasms [15].

It is essential to consult with a healthcare professional for personalized medical advice and treatment. They will be able to recommend the most suitable drug treatment plan based on individual needs and health status.

References:

[4] Meyyazhagan A (2022) Capsules comprising tizanidine and baclofen are given orally as antispasmodics in HSP conditions. [5] Disease Overview. Autosomal dominant spastic paraplegia type 42 is a ... [7] Bellofatto M (2019) Therapeutic options include physical therapy, oral antispastic drugs (baclofen, progabide), and botulinum toxin injections. [8] Treatment with the microtubule-targeting drug vinblastine reverts the synaptic ... struggling, and shame due to spasticity: A qualitative study of adult persons with hereditary spastic paraplegia. Disabil Rehabil. 2019; 42(26): 3744–3751. [15] Welcome to the HSP Research Foundation - created in 2005 to find a cure for Hereditary Spastic Paraplegia - an inherited, degenerative disease affecting mainly the legs, causing muscle weakness, spasticity and severely impairing walking. Read more » Information on this website and resources to which we have links are general knowledge about HSP.

Hereditary Spastic Paraplegia (HSP) type 42, also known as SPG7, is a rare genetic disorder that affects the nervous system. The differential diagnosis for HSP type 42 involves identifying other conditions that may present with similar symptoms.

Conditions to consider:

• Multiple Sclerosis: This autoimmune disease can cause weakness, spasticity, and bladder problems, which are also symptoms of HSP.
• Structural abnormalities involving the spinal cord: Conditions such as syringomyelia or tethered cord syndrome can cause similar symptoms to HSP.
• Other hereditary spastic paraplegias: There are over 40 known subtypes of HSP, each with distinct genetic and clinical features. A thorough evaluation is necessary to rule out other forms of HSP.

Key diagnostic features:

• Axonal degeneration: This is a hallmark feature of SPG7, which can be confirmed through genetic testing.
• Cerebellar ataxia: Some individuals with SPG7 may also experience cerebellar ataxia, which affects coordination and balance.
• Optic atrophy: In some cases, SPG7 can cause optic nerve degeneration, leading to vision problems.

Investigations and tests:

• MRI of the brain and spinal cord: This imaging test can help rule out other conditions that may be causing symptoms.
• Genetic testing: A genetic diagnosis can confirm the presence of a mutation in the SPG7 gene.
• Neurological examination: A thorough evaluation by a neurologist is essential to assess muscle strength, reflexes, and coordination.

References:

• [1] - This condition is characterized by extensive weakness and spasticity in lower extremities due to axonal degeneration.
• [7] - SPG7 causes a spastic paraplegia in combination with cerebellar ataxia, cerebellar atrophy, optic atrophy, and other features.
• [12] - This condition is one of the main differential diagnoses for hereditary spastic paraplegia.