Atypical hypotonia-cystinuria syndrome is a rare genetic disorder characterized by hypotonia (low muscle tone), cystinuria (an inherited disorder of amino acid metabolism), and other symptoms. Symptoms may include delayed development, intellectual disability, seizures, and vision and hearing problems. Treatment is symptomatic and supportive.

The symptoms of Atypical hypotonia-cystinuria syndrome vary from person to person, but may include:

-Hypotonia (low muscle tone)
-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Frequent infections
-Kidney stones
-Abnormal urine color
-Abnormal urine odor
-Abnormal urine composition
-Abnormal blood levels of cystine
-Abnormal eye movements
-Abnormal facial features
-Hearing loss
-Heart defects
-Gastrointestinal problems
-Skeletal abnormalities
-Skin abnormalities

Atypical hypotonia-cystinuria syndrome is caused by a mutation in the SLC3A1 gene. This gene is responsible for the production of a protein called cystinosin, which is involved in the transport of cystine, an amino acid, out of cells. Mutations in this gene can lead to an accumulation of cystine in cells, resulting in the symptoms of Atypical hypotonia-cystinuria syndrome.

The primary treatment for Atypical hypotonia-cystinuria syndrome is to manage the symptoms. This may include physical therapy to help improve muscle strength and coordination, occupational therapy to help with daily activities, speech therapy to help with communication, and nutritional counseling to help with dietary needs. Medications may also be prescribed to help with seizures, pain, and other symptoms. In some cases, surgery may be necessary to correct anatomical abnormalities.

1. Genetic mutation: Atypical hypotonia-cystinuria syndrome is caused by a mutation in the SLC3A1 gene.

2. Family history: Atypical hypotonia-cystinuria syndrome is inherited in an autosomal recessive pattern, which means both parents must carry the mutated gene for a child to be affected.

3. Age: Atypical hypotonia-cystinuria syndrome is most commonly diagnosed in infancy or early childhood.

At this time, there is no known cure for Atypical hypotonia-cystinuria syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage muscle weakness, seizures, and other symptoms. Physical and occupational therapy may also be recommended to help improve muscle strength and coordination.