Dr.Ghaniya KC, Dr.C Jayakumar
AIMS KOCHI
A nine-year-old male, the second-born of non-consanguineous parents, presented with complaints of pain in the calf muscles and proximal upper limb muscles since June 2023.
Clinical Presentation
The child was in good health until June ,2023, when he began experiencing pain in his calf region during lunch. The pain progressively ascended to his thighs, leading to difficulty walking and stiffness in weeks The child required assistance for toilet activities and reported to have the history of fever. Similar episodes were aggravated cold exposure and relieved rest and analgesics. There was no history of fatiguability, hematuria, ptosis, bulbar symptoms, respiratory problems, diurnal variation, rash, or joint pain.
Past Medical History – The child had no significant past hospital admissions.
Family History : Brother – revealed fever and generalized myalgia but no significant pain or cold precipitation.
Investigations :
• Complete Blood Count (CBC): Within normal limits
• C-Reactive Protein (CRP): 0.78 mg/L
• Erythrocyte Sedimentation Rate (ESR): 10 mm/hr
• Vitamin D: 21 ng/mL low
VITB12normal
T4/TSH WNL
Liver Function Tests (LFT): Normal
• Creatine Kinase (CK): 68 U/L
• Calcium: 9.6 mg/dL
• Parathyroid Hormone (PTH): 23 pg/mL
• Uric Acid: 3.8 mg/dL
• Peripheral Blood Smear (PBS): Normal
• Lactate Dehydrogenase (LDH): 206 U/L
• HLA B-27: Negative
• Antistreptolysin O (ASO): Normal
• Ultrasound (USG) Abdomen: Multiple mesenteric lymph nodes
• USG Arterial Doppler: Irregular pulse rhythm noted in all arteries
Physical Examination
• General: Afebrile, conscious, and alert
• Central Nervous System (CNS): Cranial nerves I-XII intact
• Motor: Normal bulk, tone, and power in bilateral upper and lower limbs
• Deep Tendon Reflexes: Biceps, triceps, supinator, knee +1; ankle bilateral 2+
• Sensory System: Normal
• Cerebellar Signs: Absent
• Gait: Normal
• No signs of meningeal irritation
Differentials
Congenital myopathy
Mitochondrial cytopathy
Duchenne and Becker we’re not considered as CPK was normal
Treatment and Course – The child was initially started on deflazacort 6 mg orally once daily for one week, followed sulfasalazine 500 mg daily until April 24, 2023. Additional medications included folitrax 10 mg weekly, syrup shecal 5 mL daily, and wysolone 5 mg half tablet daily.
Genetic Testing – Whole Exome Sequencing (WES) identified a variant in the SYNE2 gene, confirming a diagnosis of Emery-Dreifuss muscular dystrophy.
Plan – A cardiology consultation was scheduled to address potential cardiac involvement associated with EDMD.
Emery-Dreifuss muscular dystrophy (EDMD) is a genetic condition characterized progressive muscle weakness and wasting, joint contractures (stiffness of joints), and heart problems. Here are the key points:
1. Symptoms
– Muscle Weakness : Typically begins in the muscles of the upper arms and lower legs.
– Contractures : Early contractures are common, especially in the elbows, neck, and heels.
– Cardiac Involvement : Can include arrhythmias (irregular heartbeats), cardiomyopathy (disease of the heart muscle), and risk of sudden cardiac arrest.
2. Genetics :
– EDMD can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner.
– X-linked EDMD : Caused mutations in the EMD gene, which encodes emerin. This is the most common form.
– Autosomal Dominant/Recessive EDMD**: Often caused mutations in the LMNA gene, which encodes lamin A/C.
3. Diagnosis :
– Based on clinical symptoms, family history, and genetic testing.
– Muscle biopsy, electromyography (EMG), and cardiac evaluations can also aid diagnosis.
4. Management :
– No cure exists, but treatment focuses on managing symptoms and preventing complications.
– Physical Therapy : To maintain mobility and prevent contractures.
– Cardiac Care : Regular monitoring, medications, and potentially pacemakers or implantable cardioverter-defibrillators (ICDs).
– Orthopedic Interventions : Surgery may be needed for severe contractures.
5. Prognosis :
– Varies widely; cardiac complications are the most significant concern.
– With appropriate management, individuals can lead relatively normal lives but must be monitored closely for cardiac issues.
Understanding the genetic basis and potential complications is crucial for managing EDMD effectively. Regular check-ups with a multidisciplinary team, including neurologists, cardiologists, and physiotherapists, are essential for optimal care.