Neurological Bladder and Bowel dysfunction
Neurogenic bladder dysfunction (NGB) in conditions like Parkinson's disease and multiple sclerosis can cause urinary issues. Treatment includes antimuscarinic agents, intravesical oxybutynin, or botulinum toxin. Neurogenic bowel dysfunction (NBD) with constipation and incontinence in conditions like multiple sclerosis is managed with diet modification, laxatives, and, in severe cases, interventions like transanal irrigation or surgery.
Stiffperson Syndrome
Stiff-person syndrome (SPS) is a rare disorder characterized by progressive muscle stiffness and spasm, often associated with type 1 diabetes or, rarely, as a paraneoplastic syndrome. Treatment aims to control symptoms and improve mobility. Benzodiazepines like diazepam and clonazepam are commonly used. Baclofen may be considered if benzodiazepines are ineffective or intolerable. In refractory cases, IVIG, rituximab, or plasma exchange can be options for treatment.
Paramyotonia congenita
Paramyotonia congenita (PMC) is a non-progressive autosomal dominant disorder of skeletal muscles caused by SCN4A gene mutations. It leads to stiffness, worsened by cold or exertion. Treatment focuses on symptom management, including avoiding triggers, a low-potassium diet, and medications like mexiletine, lamotrigine, or acetazolamide. Genetic counseling is recommended.
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a progressive genetic disorder with muscle weakness, cardiomyopathy, and respiratory problems. Multidisciplinary care, glucocorticoids, and genetic therapies are key treatments. Cardiomyopathy is managed with angiotensin receptor blockers, and respiratory issues require monitoring and interventions. Palliative care provides support at all stages.
Myotonic disorders
Myotonic disorders are genetic conditions causing clinical and electrical myotonia. Myotonia is characterized by delayed muscle relaxation after contraction and spontaneous muscle fiber discharge on EMG. It can be caused by various factors, including diseases and medications. Treatment includes avoiding triggers, symptomatic medications like mexiletine, and multidisciplinary care involving specialists in various fields. Physical therapy and orthoses can help manage muscle contractures, and palliative care can provide support throughout the disease course.
Myasthenic crisis
Myasthenic crisis is a life-threatening condition in myasthenia gravis with worsening weakness, often due to infection, surgery, or medications. Treatment includes intensive care, respiratory support, plasma exchange or IVIG, and immunomodulating therapy to improve strength and manage triggers.
Tick paralysis
Ticks can transmit infections to humans, causing tick paralysis due to neurotoxins. Symptoms start with paraesthesia and weakness, progressing to ascending paralysis and, in severe cases, respiratory failure and death. Treatment involves tick removal, and recovery typically occurs after removal. Supportive care may be needed for paralysis caused by certain tick species. Prevention includes wearing protective clothing and using tick repellents.
Inclusion body myositis
Inclusion body myositis (IBM) is an inflammatory muscle disorder with insidious onset of leg weakness and elevated serum CK. Treatment aims to optimize muscle strength and includes physical therapy, assistive devices, and immunosuppressive medications, particularly for those with associated autoimmune conditions or rapidly progressing weakness. Immune globulin and oxandrolone have unclear benefits and are not recommended.
Acid Maltase Deficiency
Acid Maltase Deficiency (Pompe disease) is a glycogen storage disease. It has infantile and late-onset forms. Infantile form presents with heart issues and can be fatal in early childhood. Late-onset form causes skeletal myopathy and respiratory problems. Newborn screening helps with early diagnosis. Treatment involves enzyme replacement therapy and multidisciplinary care.
Polymyalgia rheumatica
Polymyalgia rheumatica (PMR) causes pain and stiffness in shoulders, hips, and neck. Treatment uses low-dose glucocorticoids like prednisolone (initially 15 mg daily) with adjustments based on symptoms. Some stop treatment after 1-2 years, while adjunctive medications like methotrexate or tocilizumab may be added for comorbidities or glucocorticoid-related side effects. Physical therapy aids fitness recovery.
Dermatomyositis
Dermatomyositis (DM) is an inflammatory disorder with muscle weakness and characteristic skin manifestations. Treatment aims to improve muscle strength and resolve skin issues. Glucocorticoids are the initial therapy, followed by tapering. Glucocorticoid-sparing agents like azathioprine or methotrexate can be considered if steroids are ineffective. Skin symptoms can be managed with sun protection, topical treatments, and antihistamines. Intravenous immune globulin (IVIG) may help in severe cases with life-threatening weakness or dysphagia.
Botulism
Botulism is a serious condition caused by Clostridium botulinum bacteria, leading to cranial nerve symptoms and muscle weakness. Treatment involves hospitalization, respiratory support if needed, and antitoxin administration. For infants, human-derived botulism immune globulin is used. Foodborne botulism may require laxatives, wound botulism needs debridement and antibiotics.
Polymyositis
Polymyositis (PM) is an idiopathic inflammatory myopathy characterized by muscle weakness and inflammation. Treatment involves glucocorticoids, typically prednisolone or methylprednisolone, followed by tapering. Glucocorticoid-sparing agents like azathioprine or methotrexate may be considered if needed. Severe cases may benefit from intravenous immune globulin (IVIG). Physical therapy and dietary precautions are also important.
Tetanus
Tetanus is a disorder caused by Clostridium tetani, characterized by muscle spasms. Treatment involves wound management, neutralizing unbound toxin with human tetanus immune globulin (HTIG), and controlling spasms with diazepam or intrathecal baclofen. Autonomic dysfunction is managed with magnesium sulfate, labetalol, or morphine sulfate. Severe cases may require endotracheal intubation or tracheostomy, and nutritional support. Physical therapy helps with muscle recovery.
Lambert Eaton Syndrome
Lambert-Eaton Myasthenic Syndrome (LEMS) causes proximal muscle weakness and is associated with malignancies. Diagnosis involves CT scans and SOX antibody testing. Treatment options include amifampridine, guanidine, and pyridostigmine for mild cases. More severe cases may require immunomodifying treatments like IVIG, prednisolone, azathioprine, mycophenolate, or plasma exchange.
Myasthenia Ocular Type
Ocular Myasthenia Gravis (OMG) causes eye muscle weakness, resulting in ptosis and diplopia. Treatment options include acetylcholinesterase inhibitors, immunosuppressive therapy, thymectomy, and corrective surgeries for ptosis and strabismus. Immunomodulating treatments can be considered for refractory cases.
Periodic Paralysis
Periodic Paralysis (PP) is a neuromuscular disorder with different types, including hypokalemic PP, hyperkalemic PP, Andersen-Tawil syndrome, and thyrotoxic PP. Treatment varies based on the type and includes potassium supplementation, dietary changes, diuretics, and other medications as needed to manage and prevent attacks.
Episodic Ataxia
Episodic Ataxia (EA) encompasses seven types (EA1 through EA7) with varying symptoms. EA1 and EA2 are common, featuring myokymia, ataxia, and more. Triggers include stress, activity, and more. Treatment options include acetazolamide, carbamazepine, dalfampridine, and levetiracetam depending on the type.