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}Are group of inherited or acquired disorders, presenting either with pure ataxia or in association with other neurological and non-neurological features.}DDxis wide

}Causes of ataxia1)Structural 2)Infection 3)Degenerative 4)Inflammatory (multiple sclerosis, Coeliac disease)5)Metabolic and endocrine 6)Vascular 7)Inherited ataxias

}Inherited ataxias: are heterogeneous group oFriedreichataxia: childhood or adolescence onsetvAtaxia, nystagmus, dysarthria, spasticity, areflexia, DM, optic atrophy and cardiac abnormalities.vAutosomal recessive oAtaxia telangiectasia: childhood onsetvProgressive ataxia, telangiectasia on conjunctivae, tendency to malignancies vAutosomal recessive

}It is one of the neurodegenerativediseases characterized by degeneration of motor neurons in the spinal cordand cranial nerve nuclei, and of pyramidal neurons in the motor cortex.}M.N.D is a progressive disorder of unknown cause.

Clinical features: }Usually after the age of 50 years}Very uncommon before the age of 30 years}Affects males more commonly than females}Limb muscle weakness, wasting,cramps, occasionally fasciculation}Disturbance of speech/swallowing (dysarthria/dysphagia)}Progressive over months

Signs include:}Wastingand fasciculationof muscles}Weakness of muscles of limbs, tongue, face and palate}Pyramidal tract involvement causes spasticity, exaggerated tendon reflexes, extensor plantar responses}External ocular muscles and sphincters usually remain intactThe presence of brisk reflexes in wasted fasciculatinglimb muscles is typical.

}No ocular involvement }No sphenctor dysfunction}No objective sensory deficit}No intellectual impairment in most cases}No CSF abnormality}No cerebellar involvement

}There are four clinical pattern of M.N.D:1-Progressive muscular atrophy2-Progressive bulbar palsy3-Pseudobulbar palsy4-Amyotrophic lateral sclerosis Diagnosis:}Alternative diagnoses need to be carefully excluded in particular, potentially treatable disorders.}Investigations may include EMG&NCS, thyroid function test, brain and cervical MRI.

}Differential diagnosis:1-cervical spondylosis2-multifocal motor neuropathy with conduction block3-Thyrotoxicosis4-diabetic amyotrophy5-chronic lead poisoning6-spinal cord tumor

Treatment :}The glutamate antagonist, riluzole 100mg/d, has recently been shown to have a small effect in prolonging life expectancy by about two months.}Psychological and physical support.}splints, walking aids, wheelchairs.}Feeding by percutaneous gastrostomy.}non-invasive ventilatory support may help distress from weak respiratory muscles.

MYOPATHIES}Skeletal muscle diseases, or myopathies, are disorders with structural changes or functional impairment of muscle.}The most common clinical findings of a myopathy are proximal, symmetric limb weakness (arms or legs or both) with preserved reflexes and sensation. Other symptoms and signs of muscle disease include myotonia (delayed muscle relaxation) and muscle pain (myalgia).

}Classification of myopathies:1-Muscular dystrophies2-Inflammatory myopathies3-Inherited metabolic myopathies4-Mitochondrial myopathies5-Periodic paralyses (muscle channelopathies)6-Endocrine myopathies7-Drugs and toxin

}Classification of myopathies:1-Muscular dystrophies2-Inflammatory myopathies3-Inherited metabolic myopathies4-Mitochondrial myopathies5-Periodic paralyses (muscle channelopathies)6-Endocrine myopathies7-Drugs and toxin

Duchenne Muscular Dystrophy}This is X-linked recessive disorder.}The disorder usually becomes apparent between ages 3 and 5 years. The boys fall frequently and have difficulty keeping up with friends when playing. Running, jumping, and hopping are invariably abnormal. }On getting up from the floor, the patient uses his hands to climb up himself [Gower‘s sign].}He may start toe walking.

}By age 12, most patients are wheelchair dependent}Serum CK (creatine kinase) levels are invariablyelevated to between 20 and 100 times normal.}Patients with Duchenne dystrophy used to die within 10 years of diagnosis, but with improved general care they are now living into the third decade.}Cardiac involvement may include conduction defect, cardiomyopathy.}Have bilateral calf muscle enlargement (pseudo hypertrophy)

Myotonic dystrophy}Autosomal dominant inheritance.}Onset at any age, usually around 20 years}Affected patients have a typical "hatchet-faced" appearance due to temporalis, masseter, and facial muscle atrophy and weakness. }Frontal baldness is also characteristic of the disease.}Bilateral ptosis.

}Distal limb weakness.}Myotonia is demonstrable by percussion of the thenar eminence, the tongue, and wrist extensor muscles. Myotonia causes a slow relaxation of hand grip after a forced voluntary closure.}Lens opacities.}cardiac conduction abnormalities}Hypogonadism.


رفعت المحاضرة من قبل: Ahmed monther Aljial
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