Walking and Ataxia 415 Case 66 A Man with Progressive Neuropathy and Congestive Heart Failure 422 Case 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent [books.google.com]

walking Increased connective tissue Apnea Hyperlordosis Congenital onset Dyspnea Neonatal hypotonia Short stature Gait disturbance Hip contracture Easy fatigability Poor head control Narrow face Long face Bulbar palsy Exertional dyspnea Tics Generalized [mendelian.co]

His symptoms initially began with difficulty walking down stairs because his left knee would ‘‘give out.’’ [slideplayer.com]

METHODS: Clinical and genetic findings of 47 patients from 9 unrelated Turkish families diagnosed with OPDM at the Department of Neurology, Istanbul Faculty of Medicine, between 1982 and 2009 were evaluated. [ncbi.nlm.nih.gov]

Our study also demonstrated a tendency for patients that initially presented with bilateral ophthalmoplegia to exhibit a relatively slower disease progression than those with initial limb weakness, as observed in the Turkish patients. [journals.plos.org]

[…] ophthalmoplegia High serum CK Rule out Oculopharyngodistal myopathy Inclusion body myopathy with joint contractures & ophthalmoplegia Missense mutation in PABPN1 Oculopharyngodistal myopathy Autosomal Dominant or Recessive Epidemiology Japanese, English, Dutch, Turkish [neuromuscular.wustl.edu]

Eleven of his relatives, over a period of three generations, had ptosis, dysphagia, nasal voice and difficulty in walking. [scinapse.io]

voice Tongue weakness Limbs Legs Arms Distal: Anterior tibial; Finger extensors Onset: 5 years after disease onset Limb strength normal (20%) Progression: To proximal muscles Respiratory Common May develop while ambulant Postural drop Prognosis Wheelchair [neuromuscular.wustl.edu]

Dysphagia and a hoarse or nasal voice occurred in all patients after a disease duration of up to 2 years. All patients exhibited limb weakness, with the distal muscles predominantly affected. [journals.plos.org]

Palatal, pharyngeal, and tongue involvement produce a dysarthric speech, nasal voice, and swallowing problems. Some patients have diaphragm and intercostal muscle weakness, resulting in respiratory insufficiency. [clinicalgate.com]

Muscle Weakness 533 Case 85 A Sedentary Man with Acute Respiratory Failure and Myoglobinuria 539 Case 86 A Uremic Man with Proximal Muscle Weakness 545 Case 87 A Woman with Weakness Elevated Cholesterol and Serum Creatine Kinase Levels 550 Case 88 An [books.google.com]

muscle weakness Mitochondrial myopathy Gowers sign Myalgia Multiple mitochondrial DNA deletions Fatigue Ataxia Ragged-red muscle fibers Glaucoma Feeding difficulties Flexion contracture High palate Hearing impairment Sleep apnea Nemaline bodies Muscle [mendelian.co]

OPMD is an autosomal dominant late-onset disorder characterized by progressive ptosis, dysphagia, and proximal muscle weakness. [journals.plos.org]

67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia [books.google.com]

[…] distal and mildly asymmetric, similar to s-IBM, but more often distally accentuated and lacking in the characteristic quadriceps/deep finger flexor emphasis of s-IBM; almost all patients have sensory signs and symptoms; examination shows diffuse hypo/areflexia [emedicine.staging.medscape.com]

Case 58A A Woman with Leg Numbness Pain Weakness and Slow Nerve Conduction Velocities 372 Case 58B A Boy with Leg Weakness 375 Case 59 A Man with Hand Weakness and Numbness After Skiing 383 Case 60 A Man with Recurrent Foot Drop 386 Case 61 An Elderly [books.google.com]