Amyotrophic Lateral Sclerosis - Juvenile, with Sensorineural Deafness

What is Amyotrophic Lateral Sclerosis - Juvenile, with Sensorineural Deafness?

Amyotrophic Lateral Sclerosis - Juvenile, with Sensorineural Deafness is a rare disease. It is also known as Motor neuron disease - sensorineural deafness -juvenile.

The age of onset of this condition is in the late teens or early 20s with progressive weakness and wasting of the arms and forearms later progressing to involve the distal parts of the lower limbs. The deafness is not congenital but occurs in childhood and is sensorineural in type. Weakness also affects the facial and bulbar muscles and the plantar reflexes are extensor. Brainstem evoked responses suggest a lesion the peripheral part of the auditory pathway and the EMG confirms anterior horn cell disease. This condition is probably the same as the Madras type of bulbar spinal muscular atrophy which is thought to be the same as the syndrome of Vialetto-Van Laere (see elsewhere in the database). The condition is probably recessive.

* This information is courtesy of the L M D.

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What gene changes cause Amyotrophic Lateral Sclerosis - Juvenile, with Sensorineural Deafness?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Amyotrophic Lateral Sclerosis - Juvenile, with Sensorineural Deafness?

The typical symptoms of the syndrome are:

How does someone get tested for Amyotrophic Lateral Sclerosis - Juvenile, with Sensorineural Deafness?

The initial testing for Amyotrophic Lateral Sclerosis - Juvenile, with Sensorineural Deafness can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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