spastic ataxia 7

Spastic Ataxia 7 (SPG7) Overview

Spastic Ataxia 7, also known as SPG7, is a rare hereditary ataxia characterized by progressive muscle stiffness (spasticity) in the legs and difficulty with coordination and balance. This condition typically affects adults, although it can manifest at any age.

Key Features:

• Progressive spasticity: Muscle

Spastic ataxia 7 (SCA7) is a rare genetic disorder that affects the nervous system. The signs and symptoms of SCA7 can vary from person to person, but they often include:

• Poor visual acuity: Many people with SCA7 experience impaired vision, which can range from mild to severe [1].
• Cerebellar ataxia: This refers to a lack of coordination and balance, leading to difficulties with walking, fine motor tasks, and other physical activities [2].
• Dysarthria: People with SCA7 may experience slurred speech or difficulty articulating words due to muscle weakness in the face and tongue [3].
• Pyramidal signs: These include symptoms such as spasticity (increased muscle tone), hyperreflexia (overactive reflexes), and weakness in the limbs, particularly in the lower limbs [4].
• Ataxia of gait: This refers to difficulties with walking, including stumbling, falling, or having a wide-based gait due to poor balance and coordination [5].

It's worth noting that SCA7 can also cause other symptoms, such as nystagmus (abnormal eye movements), optic neuropathy (damage to the optic nerve), and sphincter dysfunction. However, these symptoms may not be present in every individual with SCA7.

References:

[1] by AR La Spada · 2020 · Cited by 48 — In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia.

[2] by G Casari · 2018 · Cited by 39 — The first sign is typically insidiously progressive bilateral leg weakness. Additional features. Other signs and symptoms can be observed [ ...

[3] by AR La Spada · 2020 · Cited by 48 — In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia.

[4] by G Casari · 2018 · Cited by 39 — The first sign is typically insidiously progressive bilateral leg weakness. Additional features

Diagnosis of Spastic Ataxia 7 (SPG7)

Spastic ataxia 7, also known as SPG7, is a rare genetic disorder that affects the nervous system. The diagnosis of this condition can be challenging and requires a combination of clinical evaluation, family history, and genetic testing.

Clinical Presentation

The symptoms of spastic ataxia 7 typically begin in childhood or adolescence and progress slowly over time [4]. Affected individuals may experience:

• Spasticity (increased muscle tone) in the legs
• Ataxia (loss of coordination and balance)
• Difficulty with speech and swallowing
• Vision problems, including congenital miosis (pupil constriction)

Diagnostic Testing

The diagnosis of SPG7 is established through genetic testing, which involves analyzing DNA samples from affected individuals [2]. The most common genetic test used to diagnose SPG7 is panel sequencing of hereditary spastic paraplegia genes, exome or genome sequencing [2].

Other Diagnostic Considerations

It's essential to rule out other conditions that may present with similar symptoms. These include:

• Spinocerebellar ataxias (SCAs)
• Friedreich's ataxia
• Other hereditary spastic paraplegias

A thorough clinical evaluation, including a detailed medical history and physical examination, is crucial in making an accurate diagnosis [7].

References

[1] Jul 23, 2020 — Diagnosis/testing. [2] Diagnosis is suspected on clinical presentation and confirmed by genetic testing (panel sequencing of hereditary spastic paraplegia genes, exome or genome ... [3] Rapid progression of ataxia (within months) should prompt a search for underlying malignancy, including with serological testing for paraneoplastic antibodies. [4] Jun 25, 2021 — Spastic paraplegia type 7 (also called SPG7) is one of more than 80 genetic disorders known as hereditary spastic paraplegias. [5] Ideal for patients with a clinical suspicion of ataxia when repeat expansion variants are excluded either as clinically incompatible or by previous testing. [6] Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia ... [7] by EK Tan · 2001 · Cited by 75 — Although genetic tests for known spinocerebellar ataxia (SCA) genes are increasingly available, their exact clinical role has received much less attention. [8] by AH Németh · 2013 · Cited by 202 — All cases had been tested for spinocerebellar ataxia 1–3, 6, 7 and Friedrich's ataxia and had multiple other biochemical, genetic and invasive tests. In ... [9] by LI Rudaks · 2024 · Cited by 5 — Testing methods include targeted evaluation of STR expansions (e.g. SCAs, Friedreich ataxia, fragile X-associated tremor/ataxia syndrome, ...

Treatment for Spastic Ataxia

The treatment for lack of coordination or imbalance, commonly associated with spastic ataxia, is mostly done with the use of adaptive devices and physical therapy. These can help you to be as independent as possible and improve your quality of life.

• Adaptive Devices: Adaptive devices such as walkers, canes, and wheelchairs can provide support and stability, allowing individuals with spastic ataxia to move around safely.
• Physical Therapy: Physical therapy can help improve muscle strength, balance, and coordination. A physical therapist can create a personalized exercise program to address specific needs and goals.

It's essential to work with a healthcare professional to develop a comprehensive treatment plan that addresses the individual's unique needs and circumstances. They can also provide guidance on managing symptoms and improving overall well-being.

References

• The treatment for lack of coordination or imbalance is mostly done with the use of adaptive devices and physical therapy [7].
• These can help you to be as independent as possible and improve your quality of life [7].

Spastic ataxia 7 (SPAX7) is a rare genetic disorder that affects the nervous system, causing progressive muscle stiffness and weakness, particularly in the legs. The differential diagnosis for SPAX7 involves ruling out other conditions that may present with similar symptoms.

According to various studies [1, 4], the differential diagnosis of spastic ataxias should include:

• Autosomal recessive spastic ataxia 5 (ARSAT5)
• Spinocerebellar ataxia 28 (SCA28)
• Friedreich's ataxia
• Ataxia with vitamin E deficiency (AVED)
• Abetalipoproteinemia

These conditions can present with similar symptoms, such as muscle stiffness and weakness, particularly in the legs. However, SPAX7 is a distinct entity that requires specific diagnostic criteria [1].

In addition to these conditions, other factors should be considered in the differential diagnosis of spastic ataxia 7, including:

• Genetic testing: This can help confirm or rule out the presence of mutations in the AFG3L2 gene, which is associated with SPAX7.
• Clinical evaluation: A thorough clinical examination can help identify specific features that may suggest SPAX7, such as progressive muscle stiffness and weakness.

It's worth noting that the differential diagnosis for spastic ataxia 7 is complex and requires a comprehensive approach. A multidisciplinary team of healthcare professionals, including neurologists, geneticists, and other specialists, should be involved in the diagnostic process [8].

References:

[1] by G Casari · 2018 · Cited by 39 — Loss of AFG3L2 function is associated with autosomal recessive spastic ataxia 5 and spinocerebellar ataxia 28 (see Differential Diagnosis).

[4] by K Choquet · 2016 · Cited by 69 — Thus, a growing number of studies indicate that SPG7 should be considered in the differential diagnosis of recessive cerebellar ataxia. In this context, SPAX7 is also a relevant condition.

[8] by RN de Silva · 2019 · Cited by 88 — This review aims to provide general neurologists with helpful pathways for diagnosing and managing adults with progressive ataxias.