Spinal Muscular Atrophy: Or something else? Differential Diagnosis

Endocrine, nutritional, and metabolic diseases (E00-E90).

  • Disorders of carbohydrate metabolism

Musculoskeletal system and connective tissue (M00-M99).

  • Polymyositis – autoimmune disease; inflammatory systemic disease of skeletal muscle.

Psyche – nervous system (F00-F99; G00-G99).

  • Amyotrophic lateral sclerosis (ALS) – progressive, irreversible degeneration of the motor nervous system.
  • Emery-Dreifuss muscular dystrophy (synonym: Hauptmann-Thannhauser syndrome) – autosomal dominant or autosomal recessive or X-linked inherited muscle disease that manifests in childhood.
  • Facio-scapulo-humeral muscular dystrophy (FSHD) – autosomal-dominant inherited muscle disease with muscle weakness in the face (fazio-), shoulder girdle (-scapulo-) and upper arms (-humeral); manifestation: insidious in adolescence or young adulthood onset.
  • Limb-girdle dystrophy – group of hereditary muscle diseases (myopathies), the common feature of which is paralysis of the muscles of the shoulder and pelvic girdle; onset: infancy to old adulthood.
  • Hereditary motor-sensory neuropathy type I (HMSN I; from English “hereditary neuropathy with liability to pressure palsies” (HNPP); synonyms: Charcot-Marie-Tooth disease, English Charcot-Marie-Tooth disease) – chronic neuropathy (generic term for diseases of the peripheral nerves) that is inherited in an autosomal-dominant manner and leads to motor and sensory deficits; motor deficits are in the foreground.
  • Congenital myopathy – group of congenital disease of the musculature, which are already noticeable in the first months of life with muscle weakness and muscle hypotonia.
  • Lambert-Eaton-Rooke syndrome (synonyms: Lambert-Eaton syndrome (LES), pseudomyasthenia, pseudomyasthenic syndrome; English Lambert-Eaton myasthenic syndrome (LEMS) – rare neurological disorder whose characteristic feature is proximally emphasized muscle weakness; age of manifestation: adulthood.
  • Muscle-eye-brain disease – autosomal recessive congenital muscular dystrophy; age of manifestation: neonatal period, infancy.
  • Duchenne muscular dystrophy – X-linked recessive inherited muscle disease.
  • Muscular dystrophy Becker-Kiener – X-linked recessive muscle disease that is slowly progressive (progressive) and leads to muscle weakness; manifestation in childhood.
  • Myasthenia gravis – disorder of neuromuscular transmission of stimuli, which manifests itself in severe load-dependent muscle weakness and rapid onset of fatigability; in women, the disease occurs predominantly between the 2nd and 3rd decade of life and in men between the 6th and 8th decade of lifeCa. 10% of sufferers are children under 16 years of age.
  • Neuromuscular and myopathic complications of HIV.
  • Pseudomyasthenia, pseudomyasthenic syndrome; English Lambert-Eaton myasthenic syndrome (LEMS) – rare neurologic disorder whose characteristic feature is proximally emphasized muscle weakness.
  • Spinal muscular atrophy (SMA) – muscle atrophy caused by progressive loss of motor neurons in the anterior horn of the spinal cord; manifests between the ages of five and 15 years
  • Spinobulbar muscular atrophy type Kennedy (SBMA) – X-linked recessive inherited disease from the group of trinucleotide diseases; manifests in adulthood.
  • Walker-Warburg syndrome (WWS) – autosomal recessive congenital muscular dystrophy associated with malformations of the brain, eye, and impaired muscle function; symptoms of the disease are evident at birth.