autosomal recessive spinocerebellar ataxia 28

Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia, and other symptoms. It is a slowly progressive movement disorder that typically begins in early adulthood, but can affect children and older adults as well.

The disorder is caused by Purkinje cell degeneration, which leads to cerebellar ataxia. The symptoms of SCAR28 may include:

• Mildly delayed motor development
• Gait ataxia (difficulty walking)
• Slowly progressive cerebellar ataxia
• Juvenile onset
• Very slowly progressive gait and limb ataxia

It's worth noting that the age of onset can vary, but it typically begins in early childhood or young adulthood. The symptoms may progress slowly over time, but the rate of progression can vary from person to person.

References:

• [4] Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia ...
• [8] Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by early childhood onset of delayed motor development, gait ataxia ...
• [9] An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia ...

Based on the search results, here are the signs and symptoms of autosomal recessive spinocerebellar ataxia 28 (SCA28):

Early Childhood Onset

• Mildly delayed motor development [1]
• Gait ataxia, incoordination

Autosomal recessive spinocerebellar ataxia 28 (SCAR28) is a rare neurologic disorder characterized by onset in early childhood of mildly delayed motor development, followed by progressive cerebellar dysfunction. Diagnostic tests for SCAR28 can confirm the presence of this condition.

• DNA testing: DNA testing is highly sensitive and specific and provides a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant spinocerebellar ataxia type 28 (SCA28) [2]. This test can identify the genetic mutation responsible for SCAR28.
• Genetic testing: Genetic testing can confirm many types of SCA, including SCAR28. However, some types aren't associated with a specific mutation, so experts can't confirm all types of SCAs using this method [9].
• Clinical evaluation: A thorough clinical evaluation by a neurologist or geneticist is essential to diagnose SCAR28. This includes a detailed medical history, physical examination, and assessment of motor function.

It's worth noting that diagnosis of SCAR28 can be challenging due to its rarity and the overlap with other spinocerebellar ataxias. A definitive diagnosis may require a combination of genetic testing and clinical evaluation [8].

References: [2] - DNA testing is highly sensitive and specific and provides a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant spinocerebellar ataxia type 28 (SCA28). [9] - Genetic testing can confirm many types of SCA, including SCAR28. [8] - A thorough clinical evaluation by a neurologist or geneticist is essential to diagnose SCAR28.

Treatment Options for Autosomal Recessive Spinocerebellar Ataxia 28 (SCA28)

Autosomal recessive spinocerebellar ataxia 28 (SCA28) is a rare subtype of

Autosomal recessive spinocerebellar ataxia 28 (SCAR28) is a rare neurologic disorder characterized by onset in early childhood of mildly delayed motor development, which can be challenging to diagnose due to its similarity with other conditions.

The differential diagnosis for SCAR28 includes:

• Other adult-onset inherited or acquired ataxic gaits [1]
• Autosomal dominant spinocerebellar ataxias (SCAs), such as SCA28 itself, which is characterized by juvenile onset and slowly progressive cerebellar ataxia due to a different genetic mutation [4]
• Recessive cerebellar ataxias, such as Friedreich's ataxia, which typically have an earlier onset in childhood [9]

A correct diagnosis of SCAR28 can be made through genetic testing, which identifies the specific genetic mutations responsible for the condition. This is essential for distinguishing it from other forms of spinocerebellar ataxia and providing appropriate management and support to affected individuals.

References: [1] The ataxic gait of persons with SCA28 is indistinguishable from that seen in other adult-onset inherited or acquired conditions. [4] Spinocerebellar ataxia 28 (SCA28) is a rare autosomal dominant cerebellar disorder characterized by juvenile onset and slowly progressive cerebellar ataxia due to a different genetic mutation. [9] Autosomal recessive ataxias usually have onset in childhood; the most common subtypes are Friedreich, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1.