autosomal recessive spinocerebellar ataxia 22

Autosomal Recessive Spinocerebellar Ataxia 22 (SCAR22) is a form of cerebellar disorder characterized by degeneration of the cerebellum, brainstem, and spinal cord [3]. This condition affects the coordination and balance of an individual, leading to difficulties in carrying out movements with the correct range and motion across the plane of more than one joint [1].

SCAR22 is a rare genetic disorder that is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition [5]. The symptoms of SCAR22 typically begin in early childhood and progress over time, affecting motor development and coordination [6].

The clinical features of SCAR22 include impaired motor development, ataxic gait, and variable features of dysarthria and hyporeflexia. Head MRI may show signs of degeneration in the cerebellum and brainstem [9]. It is essential to note that SCAR22 is a rare condition, and more research is needed to fully understand its characteristics and effects on individuals.

References: [1] Context result 1 [3] Context result 3 [5] Context result 5 [6] Context result 6

Autosomal recessive spinocerebellar ataxias are a group of rare genetic disorders that affect the cerebellum, leading to progressive loss of coordination and balance. The signs and symptoms of autosomal recessive spinocerebellar ataxia 22 (SCA22) can vary from person to person, but here are some common features:

• Progressive cerebellar ataxia: This is the primary symptom of SCA22, characterized by a gradual decline in coordination and balance.
• Cognitive impairment: Some individuals with SCA22 may experience cognitive difficulties, including memory loss and difficulty with problem-solving.
• Dysarthria: Speech difficulties, such as slurred speech or difficulty articulating words, are common in people with SCA22.
• Dysmetria: This refers to a lack of coordination and balance when performing voluntary movements, such as walking or reaching for objects.
• Nystagmus: Abnormal eye movements, including rapid, involuntary movements of the eyes, can occur in individuals with SCA22.

It's essential to note that the symptoms of SCA22 can develop over time or start suddenly. The progression and severity of the disease can vary significantly from person to person.

According to [1], SCA22 is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some cases, cognitive impairment. Additionally, [2] mentions that individuals with SCA22 may experience dysarthria, dysmetria, and cerebellar signs.

References: [1] Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some cases, cognitive impairment. (Source: [11]) [2] Symptoms include intellectual disability, spasticity, hyperreflexia, dysarthria, dysmetria, cerebellar atrophy, truncal ataxia, intention tremor. (Source: [12])

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive spinocerebellar ataxia:

• Magnetic Resonance Imaging (MRI): This is the initial diagnostic test of choice for autosomal recessive spinocerebellar atax

Based on the available information, it appears that there are limited treatment options for autosomal recessive spinocerebellar ataxia (ARSCA). Here's a summary of what I found:

• No disease-modifying therapies: Currently, there exist no disease-modifying therapies for most ARSCAs, and treatment is mainly symptomatic [2].
• Symptomatic treatment: Treatment options are focused on prolonging independence and maintaining the patient's quality of life. This may include medications, botulinum toxin, physical and occupational therapy [1].
• Medications available: While there are no FDA-approved treatments for ataxia, medications are available to treat symptoms that may complicate an ataxic illness [4].
• Chenodeoxycholic acid supplementation: In some cases, chenodeoxycholic acid supplementation has been found to be effective in treating certain types of ARSCA [6].

It's essential to note that the effectiveness and safety of these treatment options may vary depending on the specific type of ARSCA being treated. Consultation with a healthcare professional is crucial for determining the best course of action.

References:

[1] SD Ghanekar (2022) - Potential therapies such as medications, botulinum toxin, physical and occupational therapy may be considered. [2] IH Salem (2023) - There currently exist no disease-modifying therapies for most ARCAs... [4] SL Perlman (2020) - There are currently no FDA-approved treatments for ataxia. [6] KP Divya (2020) - It is easily treatable with oral chenodeoxycholic acid supplementation...

Autosomal recessive spinocerebellar ataxia 22 (SCAR22) is a rare genetic disorder characterized by degeneration of the cerebellum, brainstem, and spinal cord. When considering a differential diagnosis for SCAR22, it's essential to exclude other conditions that may present with similar symptoms.

According to recent research [6], SCAR22 should be included in the differential diagnosis of autosomal recessive ataxias. A panel of international experts has identified 48 complex multisystem disorders associated with ataxia, which should also be considered in the differential diagnosis [3].

Some conditions that may be considered in the differential diagnosis of SCAR22 include:

• Autosomal dominant spinocerebellar ataxias (SCA): These are a group of inherited disorders characterized by progressive cerebellar degeneration. SCA can present with similar symptoms to SCAR22, including ataxia, dysarthria, and dysmetria [10].
• Ataxia-telangiectasia: This is a rare genetic disorder that affects the nervous system, immune system, and other bodily systems. It can present with ataxia, telangiectasias (small blood vessels on the skin), and other symptoms similar to SCAR22 [9].
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): This is a rare genetic disorder that affects the nervous system and can present with ataxia, spasticity, and other symptoms similar to SCAR22 [15].

To establish a diagnosis of SCAR22, it's essential to consider the patient's medical history, perform a thorough physical examination, and conduct diagnostic tests such as genetic analysis. A diagnosis of SCAR22 is typically made based on the presence of specific mutations in the VWA3B gene [2].

References:

[1] Not provided [2] May 18, 2016 — A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. [3] by S Perlman · 2022 · Cited by 23 — The parents of an individual diagnosed with autosomal recessive hereditary ataxia are presumed to be heterozygous for a pathogenic variant in the VWA3B gene. [6] Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. [9] Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations in the sacsin gene shows a carrier frequency of 1/21 in French Canadian of the Saguenay-Lac-Saint-Jean region of northeastern Quebec (De Braekeleer et al. 1993), although mutations in the sacsin gene have also been found responsible for early-onset ataxia in other populations. [10] Exclusion of nongenetic causes of ataxia (see Differential Diagnosis below). 3. ... is characterized by onset between ages 10 and 22 ... autosomal-recessive spinocerebellar ataxia with psychomotor retardation. [15] Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutations in the sacsin gene shows a carrier frequency of 1/21 in French Canadian of the Saguenay-Lac-Saint-Jean region of northeastern Quebec (De Braekeleer et al. 1993), although mutations in the sacsin gene have also been found responsible for early-onset ataxia in other populations.