The expansion of the spectrum of limb girdle muscular dystrophies (LGMDs) in recent years means that neurologists need to be familiar with the clinical clues that can help with their diagnosis. The LGMDs comprise a group of genetic myopathies that manifest as chronic progressive weakness of hip and shoulder girdles. Their inheritance is either autosomal dominant (LGMD1) or autosomal recessive (LGMD2). Their prevalence varies in different regions of the world; certain ethnic groups have documented founder mutations and this knowledge can facilitate the diagnosis. The clinical approach to LGMDs uses the age at onset, genetic transmission and clinical patterns of muscular weakness. Helpful clinical features that help to differentiate the various subtypes include: predominant upper girdle weakness, disproportionate respiratory muscle involvement, distal weakness, hip adductor weakness, ‘biceps lump’ and ‘diamond on quadriceps’ sign, calf hypertrophy, contractures and cardiac involvement. Almost half of patients with LGMD have such clinical clues. Investigations such as serum creatine kinase, electrophysiology, muscle biopsy and genetic studies can complement the clinical examination. In this review, we discuss diagnostic clinical pointers and comment on the differential diagnosis and relevant investigations, using illustrative case studies.

Limb-girdle muscular dystrophy

Muscle contracture

Proximal muscle weakness

Muscle weakness

10.1136/practneurol-2017-001799

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Two cases of chronic immune sensorimotor polyradiculopathy: Expanding the spectrum of chronic immune polyradiculopathies

Muscle & Nerve (2016)

Satish V. Khadilkar Bhagyadhan A. Patel Khushnuma Mansukhani Sunila Jaggi

ABSTRACT Introduction : Immune‐mediated demyelinating radiculopathies restricted to proximal sensory or motor roots are uncommon. Methods : We report the clinical, electrophysiological, biochemical, and radiological features in 2 patients with chronic immune sensorimotor polyradiculopathy (CISMP). Results : The patients presented with sensory ataxia, weakness of the lower limbs, and areflexia. Electrophysiological studies revealed involvement of proximal sensorimotor roots, as evidenced by changes in somatosensory evoked potentials, F‐waves, and H‐reflexes. In contrast, the distal nerve segments were normal. Magnetic resonance neurography findings of thickened and enhanced roots supported the electrophysiological findings. The response to immunosuppressive therapy was favorable in both patients. Conclusion : The findings from these 2 patients further expand the knowledge spectrum of immune polyradiculopathies. Muscle Nerve 55 :135–137, 2017

Polyradiculopathy

Sensory nerve

10.1002/mus.25360

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Oculopharyngeal Muscular Dystrophy

Neuromuscular Disorders (2017)

Satish V. Khadilkar Rakhil S. Yadav Bhagyadhan A. Patel

Oculopharyngeal muscular dystrophy

Pharyngeal muscles

10.1007/978-981-10-5361-0_17

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Citations (1)