SEPN1-RELATED MYOPATHY WITH ACUTE RESPIRATORY ONSET IN MIDDLE AGE: A CLINICAL AND GENETIC STUDY

Elenco Abstract

BARBARA RISI

SEPN1-RELATED MYOPATHY WITH ACUTE RESPIRATORY ONSET IN MIDDLE AGE: A CLINICAL AND GENETIC STUDY

Autori

BARBARA RISI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
FILOMENA CARIA (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – NEUROLOGY)
SIMONA DAMIOLI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – PEDIATRIC NEUROLOGY)
BEATRICE LABELLA (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, ITALY; DEPARTMENT OF CONTINUITY OF CARE AND FRAILTY, NEUROLOGY UNIT, ASST SPEDALI CIVILI OF BRESCIA, BRESCIA, ITALY – NEUROLOGY)
ENRICA BERTELLA (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – PNEUMOLOGY)
GIORGIA GIOVANNELLI (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY – PHYSICAL AND REHABILITATION MEDICINE)
LUCIA FERULLO (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, ITALY; DEPARTMENT OF CONTINUITY OF CARE AND FRAILTY, NEUROLOGY UNIT, ASST SPEDALI CIVILI OF BRESCIA, BRESCIA, ITALY – NEUROLOGY)
EMANUELE OLIVERI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, ITALY; DEPARTMENT OF CONTINUITY OF CARE AND FRAILTY, NEUROLOGY UNIT, ASST SPEDALI CIVILI OF BRESCIA, BRESCIA, ITALY – NEUROLOGY)
MATTIA BUGATTI (UNIT OF PATHOLOGICAL ANATOMY, ASST SPEDALI CIIVLI, BRESCIA, ITALY – BIOMEDICAL LABORATORY TECHNIQUES)
CARLA BARONCHELLI (UNIT OF PATHOLOGICAL ANATOMY, ASST SPEDALI CIIVLI, BRESCIA, ITALY – ANATOMIC PATHOLOGY)
LORIS POLI (DEPARTMENT OF CONTINUITY OF CARE AND FRAILTY, NEUROLOGY UNIT, ASST SPEDALI CIVILI OF BRESCIA, BRESCIA, ITALY – NEUROLOGY)
ALESSANDRO PADOVANI (DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, ITALY; DEPARTMENT OF CONTINUITY OF CARE AND FRAILTY, NEUROLOGY UNIT, ASST SPEDALI CIVILI OF BRESCIA, BRESCIA, ITALY – NEUROLOGY)
MASSIMILIANO FILOSTO (NEMO-BRESCIA CLINICAL CENTER FOR NEUROMUSCULAR DISEASES, BRESCIA, ITALY; DEPARTMENT OF CLINICAL AND EXPERIMENTAL SCIENCES, UNIVERSITY OF BRESCIA, ITALY – NEUROLOGY )

Presentatore

BARBARA RISI

Modalità

Oral Communication

Abstract

“Introduction: Selenoprotein N-related myopathy (SEPN1-RM) is an autosomal recessive disorder within the umbrella of Congenital Muscular Dystrophies, characterized by dystrophic histological changes and delayed motor milestones. Even though clinical onset typically occurs in infancy, milder phenotypes manifesting later in life have been described. Respiratory involvement is detected in 90% of cases before the age of 15.

Patient and Methods: We report the case of a 44-year-old Caucasian woman who was admitted to the ICU for acute respiratory failure requiring intubation. Four months later, she was switched to NIV, and six months later, the tracheostomy was removed. The presence of some lifelong motor limitations in her medical history suggested a neuromuscular underlying condition.

Results: Neurological examination showed a waddling gait, the presence of axial and proximal muscular weakness, along with discrete muscular distal hypotrophy at the four limbs, mild right winged scapula, lumbar hyperlordosis, and dorsal scoliosis. An EMG study revealed diffuse myogenic signs. Serum CK was mildly elevated. The right quadriceps muscle biopsy showed myopathic abnormalities with mild dystrophic features. Clinical exome sequencing revealed the presence of the two heterozygous variants c.713DupA and c.803G>A in the SEPN1 gene. The patient’s mother and father were found to be carriers of each one, respectively.

Conclusion: This study highlights the importance of respiratory involvement as a possible initial manifestation of SEPN1-RM, even in middle-aged individuals and in the absence of established muscle weakness. Greater awareness of this condition may lead to an earlier diagnosis and appropriate treatment.”