autosomal recessive spinocerebellar ataxia 12

Autosomal Recessive Spinocerebellar Ataxia-12 (ARSAT12) is a rare neurologic disorder characterized by the onset of generalized seizures in infancy, delayed psychomotor development, and progressive cerebellar dysfunction [1][3][7]. This condition is inherited in an autosomal recessive pattern, meaning that both parents must carry a mutated gene to pass it on to their child.

The symptoms of ARSAT12 can vary from person to person but often include:

• Involuntary eye movements
• Poor hand-eye coordination
• Problems with balance and coordination
• Slurred speech
• Trouble processing and remembering information [4]

In some cases, patients may also experience upper motor neuron signs such as leg spasticity and extensor plantar responses, as well as mild cerebellar atrophy on brain MRI [2][9]. The presence of action tremor associated with relatively mild cerebellar ataxia is another characteristic feature of this condition [5].

ARSAT12 is a rare disorder, and its exact prevalence is unknown. However, it is considered to be one of the several spinocerebellar ataxias that are caused by mutations in different genes.

References: [1] - Characterized by onset of generalized seizures in infancy [2] - Upper motor neuron signs with leg spasticity and extensor plantar responses [3] - Delayed psychomotor development [4] - Involuntary eye movements, poor hand-eye coordination, problems with balance and coordination, slurred speech, trouble processing and remembering information [5] - Presence of action tremor associated with relatively mild cerebellar ataxia [7] - Onset of generalized seizures in infancy, delayed psychomotor development [9] - Upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI

Signs and Symptoms of Autosomal Recessive Spinocerebellar Ataxia 12

Autosomal recessive spinocerebellar ataxia-12 (SCA12) is a neurologic disorder characterized by various signs and symptoms. Here are some of the key features:

• Generalized Seizures: The onset of generalized seizures in infancy is a characteristic feature of SCA12 [1].
• Delayed Psychomotor Development: Delayed psychomotor development is also associated with this condition [1].
• Action Tremor and Cerebellar Ataxia: The presence of action tremor associated with relatively mild cerebellar ataxia is a hallmark of SCA12 [2].
• Pyramidal and Extrapyramidal Signs: Associated pyramidal and extrapyramidal signs, such as leg spasticity and extensor plantar responses, may also be present in some patients [8].
• Poor Balance and Coordination: Like many other forms of ataxia, SCA12 is marked by poor balance and coordination [3].
• Tremors: Tremors in the head and arms are often one of the first symptoms to appear in people with SCA12 [3].
• Ataxia: Ataxia describes poor muscle control that causes clumsy movements, affecting walking and balance, hand coordination, speech, swallowing, and eye movements [5].

It's essential to note that not all patients may exhibit all these signs and symptoms, and the severity of the condition can vary from person to person.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [5] - Context result 5 [8] - Context result 8

Based on the provided context, it appears that diagnostic tests for autosomal recessive spinocerebellar ataxia 12 (SCA12) involve a combination of clinical evaluation and genetic testing.

• Clinical Evaluation: The suspected diagnosis is confirmed through brain imaging, such as MRI, to detect abnormalities in the brain [4].
• Genetic Testing: Genetic testing is used to detect the presence of the abnormal gene that causes SCA12. This involves analyzing DNA samples from affected individuals or family members to identify mutations in the WWOX gene [3].

It's worth noting that autosomal recessive spinocerebellar ataxia 12 is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I), and diagnostic tests may vary depending on individual cases.

References: [1] Clinical Genetic Test offered by CGPP - Center for Predictive and Preventive Genetics [3] Clinical algorithm for genetic testing for spinocerebellar ataxia (SCA) [4] This suspected diagnosis is then confirmed through brain imaging, such as MRI, and genetic testing to detect the presence of the abnormal gene that causes SCA12

Current Status of Drug Treatment for Autosomal Recessive Spinocerebellar Ataxia 12

Unfortunately, there is no FDA-approved treatment available for autosomal recessive spinocerebellar ataxia-epilepsy (SCAE) or its subtype, SCAR12. However, researchers have been exploring various potential therapies to alleviate symptoms and improve function.

• Rehabilitation Therapies: While not a cure, rehabilitation therapies such as occupational and physical therapy can help patients with SCAE manage their symptoms and maintain independence [1].
• Medications: Some studies have investigated the use of medications like riluzole for symptomatic treatment of autosomal dominant spinocerebellar ataxia (SCA), but its effectiveness in SCAR12 is unclear [5].
• Botulinum Toxin: Botulinum toxin injections may be considered to alleviate symptoms such as muscle spasms and tremors, although more research is needed to confirm their efficacy [1].

Emerging Therapies

Recent studies have explored the potential of topiramate in treating various forms of spinocerebellar ataxia (SCA), including SCAR12. However, these findings are preliminary, and further research is necessary to determine its effectiveness [7].

Challenges Ahead

Despite ongoing research, there remains a significant gap in our understanding of the molecular mechanisms underlying SCAR12. As a result, developing effective treatments for this condition continues to be a challenge [8].

Autosomal recessive spinocerebellar ataxia 12 (ARSCA12) is a rare neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development, and progressive cerebellar ataxia [1][2]. When considering the differential diagnosis for ARSCA12, several other conditions should be taken into account.

Other forms of spinocerebellar ataxias

• Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disease with onset during midlife and is characterized by motor symptoms [10]. While SCA1 has a different inheritance pattern than ARSCA12, it shares some similar clinical features.
• Other forms of spinocerebellar ataxias, such as SCA2, SCA3, and SCA6, may also present with cerebellar ataxia and other motor symptoms [4][7].

Recessive cerebellar ataxias

• Recessive cerebellar ataxias are a group of disorders characterized by autosomal recessive inheritance and a cerebellar motor syndrome of gait ataxia, among other features [3][8]. These conditions may present with similar clinical features to ARSCA12.

Other neurologic disorders

• Spastic ataxia is associated with peripheral mixed sensory motor neuropathy, progressive distal amyotrophy, mild intellectual disability, psychiatric symptoms, and cerebellar ataxia [6]. This condition shares some overlapping features with ARSCA12.
• Other neurologic disorders, such as cerebral palsy or developmental delay, may also present with similar clinical features to ARSCA12.

Key distinguishing features

• The onset of generalized seizures in infancy is a key feature that distinguishes ARSCA12 from other forms of spinocerebellar ataxias [1][2].
• The delayed psychomotor development and progressive cerebellar ataxia are also important distinguishing features [1][2].

In conclusion, when considering the differential diagnosis for autosomal recessive spinocerebellar ataxia 12, other forms of spinocerebellar ataxias, recessive cerebellar ataxias, and other neurologic disorders should be taken into account. However, key distinguishing features such as the onset of generalized seizures in infancy, delayed psychomotor development, and progressive cerebellar ataxia can help to differentiate ARSCA12 from these conditions.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 8 [4] Context result 7 [5] Context result 10 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9 [10] Context result 10