A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course re...
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Documentation on autosomal recessive limb-girdle muscular dystrophy type 2Q is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity has resulted in a lack of systematic clinical studies and comprehensive phenotype documentation. Additionally, the genetic basis was only recently identified, and ongoing clinical characterization is necessary to better understand the condition.
To navigate your care effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle muscular dystrophies. Genetic counseling is also recommended to understand the implications of the PLEC gene variants, and you can find a genetic counselor through the National Society of Genetic Counselors at findageneticcounselor.com. While there are no patient organizations specifically for LGMD2Q, connecting with broader muscular dystrophy organizations may provide additional resources and support.
Currently, there are two active clinical trials investigating potential treatments for LGMD2Q. These trials aim to explore various therapeutic approaches, although no orphan drugs have been designated for this specific condition. For more information on these trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=autosomal%20recessive%20limb-girdle%20muscular%20dystrophy%20type%202Q.
Actionable guidance for navigating care for autosomal recessive limb-girdle muscular dystrophy type 2Q
To navigate your care effectively, consider consulting a neurologist with expertise in muscular dystrophies, particularly those specializing in limb-girdle muscular dystrophies. Genetic counseling is also recommended to understand the implications of the PLEC gene variants, and you can find a genetic counselor through the National Society of Genetic Counselors at findageneticcounselor.com. While there are no patient organizations specifically for LGMD2Q, connecting with broader muscular dystrophy organizations may provide additional resources and support.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.