Related Experiment Video

Updated: May 13, 2026

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in

Nobuyuki Murakami1, Yukiko K Hayashi, Yuji Oto

  • 1Department of Pediatrics, Dokkyo Medical University, Koshigaya Hospital, Koshigaya, Saitama, Japan. nobuyuki@dokkyomed.ac.jp

Neuromuscular Disorders : NMD
|March 16, 2013
PubMed

Insights

Congenital generalized lipodystrophy type 4, a rare genetic disorder, was identified in a boy with muscular dystrophy. This condition, linked to a PTRF gene mutation, caused motor delays and later insulin resistance.

Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by a near-complete absence of adipose tissue.
  • Type 4 CGL is associated with mutations in the polymerase I and transcript release factor (PTRF) gene.
  • Muscular dystrophy can co-occur, presenting diagnostic challenges.

Observation:

  • A male infant presented with congenital generalized lipodystrophy type 4 and muscular dystrophy.
  • He exhibited delayed motor milestones and persistently elevated creatine kinase (CK) levels.
  • Genetic analysis revealed a homozygous c.696_697insC mutation in the PTRF gene.

Findings:

  • The patient walked at 2 years and 6 months, with no intellectual disability.
  • Insulin resistance manifested at 3 years and 11 months.
  • Muscle biopsy showed absent PTRF immunostaining but preserved sarcolemmal caveolin-3, suggesting secondary caveolin deficiency.

Implications:

  • This case highlights the phenotypic variability of PTRF-related lipodystrophy.
  • Secondary caveolin deficiency may play a role in the progression of CGL.
  • Early identification and monitoring for metabolic complications like insulin resistance are crucial.

More Related Videos

Fiber Type and Subcellular-Specific Analysis of Lipid Droplet Content in Skeletal Muscle11:50

Fiber Type and Subcellular-Specific Analysis of Lipid Droplet Content in Skeletal Muscle

Published on: June 8, 2022

A Guide to Examining Intramuscular Fat Formation and its Cellular Origin in Skeletal Muscle09:19

A Guide to Examining Intramuscular Fat Formation and its Cellular Origin in Skeletal Muscle

Published on: May 26, 2022

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...