In the OCULO-PHARYNGEAL DYSTROPHY condition there is progressive ptosis and dysphagia which start in middle life. There are several variations of ocular and oculopharyngeal type. This is also another autosomal dominant disorder.
Aminoaciduria, Pentosuria, Creatinuria are seen but are not specific. Aldolase, Phosphohexoisomerase, Transaminases are increased in the blood but of doubtful value in the diagnosis excepting possibly aldolase which increases in the Duchenne type. More specific change is increase of Creatine phosphokinase (CPK) in the blood.
Muscle biopsy and electromyography are of confirmative value. Dystrophin level is diminished or absent in Duchenne type.
Chronic motor neurone disease
Fibrillation, muscular wasting, non-symmetrical finding, negative family history, evidences of pyramidal lesion are present.
History of fever, acute onset, asymmetrical and nonprogressive lower motor neurone paralysis of any one limb particularly of lower limb are seen.
This may develop from various causes particularly endocrinal disorders, carcinomatosis and dermatomyositis.
These may improve with steroid therapy or there may be spontaneous recovery,
No effective treatment is known uptill now. General measures to improve health should be taken. Physiotherapeutic and orthopaedic measures may be of help to overcome deformities and contracture. Active body movement is useful. Diet should be balanced so that obesity may not occur. Recently nicarotine is said to give beneficial result.