Charcot-Marie-Tooth Disease & Diabetic Neuropathy PDF

Charcot-Marie-Tooth Disease Lec.4 Neurological physiotherapy Dr.Sarkawt S.Kakai Charcot-Marie-Tooth Disease Also known as peroneal muscular atrophy, is a common autosomal dominant hereditary motor sensory neuropathy Caused by abnormal peripheral myelin protein Presents with muscles weakness and sens...

Charcot-Marie-Tooth Disease Lec.4 Neurological physiotherapy Dr.Sarkawt S.Kakai Charcot-Marie-Tooth Disease Also known as peroneal muscular atrophy, is a common autosomal dominant hereditary motor sensory neuropathy Caused by abnormal peripheral myelin protein Presents with muscles weakness and sensory changes which can lead to cavovarus feet, scoliosis, and claw foot deformities. Most common inherited progressive peripheral neuropathy Patho-anatomy affected muscles become weak Peroneus brevis Tibialis anterior Intrinsic muscles of hand and foot peroneal involvement is typically first and most profound results in muscle imbalance and varus deformity weakness results in drop-foot check for wasting of 1st dorsal interosseous in hands Orthopedic manifestations Pes cavovarus Claw toes Hip dysplasia Scoliosis Hand muscle atrophy and weakness Classification of CMT Type I A demyelinating condition that slows nerve conduction velocity Characteristics: onset in first or second decade of life most commonly leads to cavus foot normal life expectancy motor involvement more profound than sensory Type II Direct axonal death caused by Wallerian degeneration (not demyelination) Characteristics: Usually less disabled than Type I onset in second decade of life or later most commonly leads to flaccid foot Symptoms Diagnosis EMG & NCS Genetic testing. Spinal tap (lumbar puncture) MRI Treatment Non-operative Physical therapy and occupational therapy. Leg braces, walkers, wheelchairs and other kinds of mobility support devices. Special footwear for changes in foot shape. Medications for some symptoms, especially chronic pain. Simply instructing a patient that they must "live with it" is an insufficient response of a Doctor to a patient in chronic pain Operative Soft tissue reconstruction 1st metatarsal dorsiflexion osteotomy Triple arthrodesis Lec.5 NP Diabetic Neuropathy Introduction Diabetic neuropathy is dysfunction and damage in the peripheral nerves in people with diabetes. Neuropathies are characterized by a progressive loss of nerve fiber function Diabetic neuropathy is a common complication of Diabetes Mellitus (DM), estimated to affect up to 51% of patients with both type 1 and type 2 DM The clinical presentation of diabetic neuropathy varies, from asymptomatic to severe neuropathic pain and numbness Diabetic neuropathy is associated with increased risk of foot ulcers, lower limb amputation and mortality 4/19/2024 2 Mechanism of Injury / Pathological Process The pathological process of diabetic neuropathy is not completely understood and is likely multifactorial. Research suggests neuronal inflammation, and cell death is caused by hyperglycemia and microvascular disease Risk factors Poor glycemic control. High blood pressure Smoking & alcohol Advance age. Advanced duration of Diabetes disease. 4/19/2024 3 Clinical Presentation More than half of the cases are distal symmetric polyneuropathy. Asymmetrical or focal syndromes, such as carpal tunnel syndrome(14-30%), radiculopathies and cranial neuropathies, account for the rest. The most common symptoms are Numbness in the hands or feet Tingling/"pins and needles" or burning sensation in the feet Pain in the hands, feet, or legs Dry or cracked skin or calluses on the feet. Distal, proximal or more focal weakness, including foot drop or frequent tripping. 4/19/2024 4 4/19/2024 5 Diagnostic Procedures Subjective history of symptoms, recent foot trauma and previous ulcers or wounds Physical examination of skin condition, foot anatomy, and vascular perfusion Testing includes assessment of gross light touch and pinprick sensation Deep tendon reflexes are commonly hypoactive or absent NCS & EMG 4/19/2024 6 Classif ication can be classified into 4 subgroups Diabetic neuropathy Proximal neuropathy 4/19/2024 Peripheral neuropathy / distal polyneuropathy. Autonomic neuropathy. Focal neuropathy / mononeuro pathy. 7 Staging A common staging scale of diabetic neuropathy is as follows: N0 - No neuropathy. N1 - Signs but no symptoms of neuropathy. N2a - Symptomatic mild diabetic polyneuropathy; sensory, motor, or autonomic symptoms; patient able to heel walk. N2b - Severe symptomatic diabetic polyneuropathy, and patient unable to heel walk. N3 - Disabling diabetic polyneuropathy. 4/19/2024 8 4/20/2024 9 Medical Management / Interventions Medical management starts with 0ptimized glycemic control (mainly for type 1 DM) and lifestyle interventions. Lifestyle intervention includes physical exercise and weight loss. Tricyclic antidepressants, serotonin-norepinephrine reuptake inhibitors (e.g. duloxetine) and anticonvulsants (e.g. pregabalin and gabapentin) are commonly prescribed treatments for neuropathic pain At present, there are no universally accepted disease modifying medicines Moreover, multidisciplinary team management is required for the prevention and management of diabetic foot complication 4/20/2024 10 4/20/2024 11 Lumbar plexopathy Dr.Sarkawt S.Kakai Anatomy Introduction Lumbosacral plexopathy is a relatively uncommon occurrence that can be difficult to diagnose and manage. Patients with LS plexopathy usually present with low back and/or leg pain. They can also experience motor weakness, other sensory symptoms of numbness, paresthesia, and/or sphincter dysfunction. Etiology Direct trauma Posterior hip dislocation Sacral fracture Metabolic, inflammatory, and autoimmune causes: Diabetes mellitus (DM) Infections and local abscess. Vertebral osteomyelitis Chronic infections (e.g. Tuberculosis, fungal infections) Psoas abscess Radiation therapy of the abdominal and pelvic malignancies. Pregnancy-related Postoperative plexopathy Evaluation History Physical examination Typically complain of unilateral pain in the proximal thigh. Physical examination may be normal in mild cases. Pain may be associated with numbness or paresthesias of the lower limbs. Bruises may be seen in cases of trauma. A straight leg raise test is positive in more than half of the patients. Diagnosis MRI with/out gadolinium contrast is the best test for the evaluation of the LS plexus. CT scan with contrast EMG & NCS Are useful to help differentiate lumbosacral plexopathy from other types of neuropathy or radiculopathies Laboratory Investigations Lumbar puncture Treatment for LS plexopathy depends upon the underlying etiology Drugs Analgesics include non-steroidal antiinflammatory drugs (NSAIDs), pregabalin, gabapentin, duloxetine, and opioids. In cases of malignancy, the primary tumor should be removed and accordingly managed. Radiation plexopathy Can often present without pain, only weakness and sensory changes. Unlike other types of plexopathy, it is usually bilateral Surgical nerve repair techniques and nerve grafting Complications Progressive neurological deterioration Intractable pain Bedsores Recurrent infections Joint contractures Hyperkinetic Movement Disorder Dr.Sarkawt S.Kakai Definition Hyperkinetic movement disorders(HMD's) also referred to as Dyskinesias are characterized by abnormal, often repetitive, involuntary movements overlapped to normal motor activity. Its 5 major types are Tremors, Chorea, Dystonia, Myoclonus and Tics. Etiology & Pathophysiology Common etiologies seen in Hyperkinetic Movement Disorders Genetic abnormalities Neurodegenerative diseases Structural lesions Infection Drugs Psychogenic problems There seems to be decrease in neural firing rates in the inhibitory output nuclei of the basal ganglia Cardinal Features Hyperkinetic movement disorders can be grouped according to distinct cardinal features, which can be described in terms of Time Space distribution Body state’s impact. Sub- features Rhythmicity Speed Body Distribution Body Distribution According to space characteristics, we can classify hyperkinetic movements according to body distribution, i.e., the body part involved in the involuntary movement. Dystonia can be classified as : Focal: 1 body part is affected Segmental: Equal to or more than 2 contiguous body parts are affected Multifocal: Equal to or more than 2 non-contiguous body parts are affected Hemi -dystonia: Ipsilateral arm and leg are involved Generalized: Equal to or more than 3 body parts are affected, including the trunk and Equal to or more than 2 other sites; with or without leg involvement Classification There are 2 types of hyperkinetic disorders Jerky Movements 1. Myoclonus: presents as a sudden brief jerk caused by involuntary muscle activity. 2. Chorea: a state of excessive, spontaneous movements, irregularly timed, non-repetitive, randomly distributed and abrupt in character 3. Tics: involuntary, rapid, abrupt, repetitive, recurrent, and nonrhythmic movements or vocalizations. Tics are suppressible and almost always disappear at sleep and can be exacerbating with stress, excitement and anxiety. Non-jerky Movements 1. Tremor: an involuntary movement that is rhythmic (i.e., regularly recurrent) and oscillatory (i.e., rotating around a central plane). 2. Dystonia: The involuntary contractions of muscles occur. It is characterized by sustained muscle contractions and abnormal trunk, neck, face, arms, and legs postures. Assessment Gait and Balance for fall prevention Functional tasks Speech and cognition Dysphagia Mental Health (behavior/affective state) Diagnosis The key to diagnosis is history and neurologic examination. Both neurological and non-neurological conditions can mimic various movement disorders, and it is vital not to miss these lookalikes. A systematic approach is recommended with one or more combination of movement disorder. Goals of Management Gait re-education Balance retraining Fall prevention/management Aerobic capacity Muscle strengthening Wheelchair prescription and training Respiratory function Task-specific reach, grasp, and manipulation.