About kugelberg welander syndrome

What is kugelberg welander syndrome?

Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss of ambulation. Symptoms of Kugelberg Welander syndrome occur after 12 months of age. Patients learn to walk, may fall frequently and may have trouble walking up and down stairs at 2-3 years of age; some patients will not show functional changes until the teens. The legs are more severely affected than the arms. The long-term prognosis depends on the degree of motor function attained as a child.

Kugelberg Welander syndrome is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA (Werndnig-Hoffman disease, juvenile SMA and Kugelberg-Welander disease) are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. More patients with Werdnig Hoffman disease (SMA1) than other types of SMA have NAIP deletions. The relationship between specific mutations in the SMN gene and nearby genes and the severity of SMA is still being investigated so classification of SMA subdivisions is based on age of onset of symptoms and maximum function achieved as opposed to the genetic profile.

What are the symptoms for kugelberg welander syndrome?

Frequent respiratory infections symptom was found in the kugelberg welander syndrome condition

The loss of motor neurons causes progressive Muscle Weakness and loss of movement due to muscle wasting (atrophy). Many types of SMA mainly affect the muscles involved in walking, sitting, arm movement, and head control. Breathing and swallowing may also become difficult as the disease progresses in many types of SMA. In some types of SMA, the loss of motor neurons makes it hard to control movement of the hands and feet.

What are the causes for kugelberg welander syndrome?

SMA type 1, 2, 3, and 4 are caused by changes (pathogenic variants, also know as genetic changes) in the SMN1 gene and are inherited in an autosomal recessive manner. Extra copies of the nearby related gene, SMN2, modify the severity of SMA. There are other rarer types of SMA caused by changes in different genes. Other autosomal recessive forms include SMA with progressive myoclonic epilepsy (SMA-PME) caused by changes in the ASAH1 gene and SMA with respiratory distress 1 (SMARD1) caused by changes in the IGHMBP2 gene. X-linked forms include X-linked infantile SMA caused by changes in UBA1. Diagnosis of SMA is suspected by symptoms and confirmed by genetic testing.

What are the treatments for kugelberg welander syndrome?

Kugelberg-Welander syndrome, also known as spinal muscular atrophy type 3, is a milder form of spinal muscular atrophy (SMA). SMA causes the degeneration of horn cells in the spinal cord and the destruction of associated alpha neurons. Type 3 disproportionately affects legs over arms. While the patient may be able to walk, he/she may require a wheelchair as the disease progresses. The common age of onset is three years. In rare cases, visceral involvement is observed.

Treatment
1. There is no complete cure for the disease. However, recently developed novel therapeutics have shown promise in combating the severe manifestations.
2. Nusinersen is an antisense oligonucleotide administered through the intrathecal route. It promotes the production of SMN 2 protein by inhibiting an SMN 2 exon splicer and thereby increases the level of functional SMN proteins. The medicine has received approval in the USA, Europe, Australia, and Japan.
3. Risdiplam is another novel therapeutic under review in the US, UK, and Europe. It has been shown to improve motor functions in type 3 SMA.
4. Orthopedic malfunctions need early intervention with physiotherapy, which helps optimize and preserve function and mobility with the use of stretching and passive movement of joints.
5. The patients require frames, orthotics, and a wheelchair to preserve their quality of life and mobility.

Symptoms
Mild muscle weakness,Difficulty walking,Frequent respiratory infections
Conditions
Spinal muscular atrophy,Neurodegeneration
Drugs
Nusinersen,Risdiplam

What are the risk factors for kugelberg welander syndrome?

Kugelberg-Welander syndrome, also known as juvenile spinal muscular atrophy, is a neurodegenerative disorder. The disease also leads to degeneration of horn cells in the spinal cord and associated alpha neurons that innervate legs.

It is a milder form of SMA that begins to present with clinical manifestation at the age of around three years. Initially, the child can walk until the onset. The disease restricts the ability of the child to walk and climb higher platforms or stairs as it progresses.

Risk factors
1. SMAs are caused by the mutations in the survival motor neuron 1 gene, whose protein product plays the neuronal role concerning the homeostatic cellular pathway. The presence of three to five copies of the mutated gene has been reported to cause type 3 SMA. The disease is passed on in the pattern of autosomal recessive inheritance.
2. When both the parents are affected, all the children born to them are affected. When one of the parents is affected, and the other is a carrier, the probability of a child born affected is 0.75.
3. Racial predisposition: the prevalence in the white population is 8 times higher than that in and mixed ethnicity
4. Lack of physical support to the affected children may lead to injuries when they, naturally, tend to move vigilantly.

Symptoms
Mild muscle weakness,Difficulty walking,Frequent respiratory infections
Conditions
Spinal muscular atrophy,Neurodegeneration
Drugs
Nusinersen,Risdiplam

Is there a cure/medications for kugelberg welander syndrome?

Kugelberg-Welander syndrome, also known as spinal muscular atrophy type 3, affects legs over hands. It is a genetic disorder caused by mutations in the survival motor neuron-1 gene that codes a protein that plays a neuronal role through the homeostatic cellular pathways. The affected child can walk normally, up to the first three years from birth; as the disease progresses, it restricts mobility and may require a wheelchair. The condition does not affect lifespan.

Cure/medication
1. Currently, there is no complete cure for SMA type 3. However, medications are available to slow the progression and prevent severe manifestations.
2. Nusinersen is a novel therapeutic recently approved by FDA in the US, Europe, Japan, and Australia. It is an antisense oligonucleotide that promotes the production of functional SMN2 protein by inhibiting an SMN2 exon-7 splicer. It results in an increased amount of SMN protein. Studies have shown motor improvements achieved by the therapeutic.
3. Risdiplam is an oral drug that works the same as nusinersen does. The second and third phases of several clinical trials have shown risdiplam to improve motor functions. Currently, the drug is under review in the US, UK, and Europe.
4. Physiotherapy plays a crucial role in the preservation of motor functions and mobility with the use of stretching exercises. Passive movements of the joint prevent joint contractures. Further, orthotics and wheelchairs help to improve the quality of life.

Symptoms
Mild muscle weakness,Difficulty walking,Frequent respiratory infections
Conditions
Spinal muscular atrophy,Neurodegeneration
Drugs
Nusinersen,Risdiplam

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