Society for Mitocondrial Research and Medicine

May everyone be healthy

The Society for Mitochondria Research and Medicine, India (SMRM) is a nonprofit organization of scientists, clinicians and academicians. The purpose of SMRM is to foster research on basic science of mitochondria, mitochondrial pathogenesis, prevention, diagnosis and treatment through out India and abroad

FOR CLINICIANS

 
Unlike nuclear genetic defects, which can often be diagnosed with a simple blood test, the investigation of mitochondrial disease is far more complex, and molecular genetic studies play only one part in the multidisciplinary approach that should be used for these patients.

Most of the mitochondrial disorders present with neurological symptoms and signs, but the clinical features are often complex and heterogenous. This clinical heterogeneity creates difficulties for the clinician in diagnosing mitochondrial diseases. The clinical features of the mitochondrial disorders are endless, however, some of the well-known clinical presentations include:

Neuromuscular
  • External ophthalmoplegia and ptosis
  • Sensorineural deafness
  • Myopathy
  • Migraine
  • Seizures/myoclonus
  • Encephalomyopathy
  • Dementia
  • Ataxia
  • Stroke-like episodes
  • Parkinsonism/dystonia
  • Spastic paraparesis
  • Peripheral neuropathy
  • Rhabdomyolysis
  • Optic atrophy
  • Pigmentary retinopathy


Cardiac
  • Hypertrophic cardiomyopathy
  • Accessory pathways
  • Heart block


Endocrine
  • Diabetes mellitus
  • Hypoparathyroidism
  • Hypogonadism
  • Infertility
Gastrointestinal
  • Dysphagia
  • Cyclical vomiting
  • Pseudo-obstruction


Renal
  • Aminoaciduria
  • Renal tubular dysfunction
  • Tubulointerstitial disease
  • Toni-Fanconi-Debre syndrome
  • Barrter syndrome


Haematological
  • Sideroblastic anaemia
  • Pancytopenia
  • Pancreas and liver
  • Exocrine pancreatic failure
  • Hepatocellular failure


Pyschiatric
  • Depression
  • Psychotic illness


Dermatological
  • Lipomatosis