congenital muscular dystrophy with cataracts and intellectual disability

Congenital muscular dystrophy with cataracts and intellectual disability is an inherited condition affecting the muscles, eyes, and cognitive development. It is caused by pathogenic variants in the INPP5K gene and follows an autosomal recessive inheritance pattern. Affected individuals typically present in early childhood with progressive muscle weakness, motor delays, and vision issues due to cataracts. The condition is very rare, affecting fewer than 1 in 1 million people, and its severity and range of symptoms can vary considerably.

Individuals with this condition commonly exhibit early-onset muscle weakness, with hypotonia and motor delays frequently observed. Cataracts and elevated creatine kinase levels are constant features, while other symptoms such as respiratory insufficiency, kyphosis, spinal rigidity, lower limb spasticity, occasional seizures, and microcephaly occur in a subset of cases. Cognitive challenges, including intellectual disability, are also an important aspect of the clinical presentation. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by homozygous or compound heterozygous mutations in the INPP5K gene. The INPP5K protein plays a crucial role in cellular signaling processes that are important for muscle and neurological function. In autosomal recessive inheritance, an affected child inherits one mutated copy from each parent. This condition is more common when parents share a common ancestor, which increases the likelihood that both may carry the same rare mutation, making genetic counseling especially valuable for family planning.

Currently, management focuses on supportive care and symptom management, as no specific foundational therapies or pharmacological treatments are available for this condition. Physical therapy, occupational therapy, and regular monitoring—including ophthalmologic and orthopedic evaluations—can help manage complications and improve quality of life. Genetic counseling is recommended to help families understand the inheritance and to explore family planning options. Patients should discuss treatment options with their healthcare team to determine the best individualized approach.

The overall course of this condition is highly variable, with outcomes differing based on symptom severity, age at diagnosis, and access to multidisciplinary care. With current standards of care, many individuals continue to live into adulthood, although challenges such as progressive muscle weakness and respiratory difficulties may develop. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition to support ongoing management and care.

Clinical trials are underway exploring new treatment approaches for this condition. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.